SLC13A5 — 786 ClinVar variants

All ClinVar germline SLC13A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 271 flagged for review →

27 Pathogenic · 8 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 27 Conflicting · 54 Benign · 11 Benign/Likely benign · 337 Likely benign · 297 Uncertain significance

Full SLC13A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 271

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

Predictors agree, ClinVar conflicts 14

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

SLC13A5 p.Arg102His Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg380Cys Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Arg380His Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Arg481His Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Gly169Ser Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.His106Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro487Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro505Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Trp346Leu Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Val431Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val431Met Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val456Ile Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val458Met Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Val96Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 198

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 198

SLC13A5 p.Ala168Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Ala215Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala2Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Ala543Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala97Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg123Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Arg201Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Arg203Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Arg307Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Arg307Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg549Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg549Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn104Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn238Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Asn249Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Glu167Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly190Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Gly288Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly336Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly434Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile483Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile534Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile534Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu156Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu302Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu429Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Leu455Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Lys107Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Lys293Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Lys388Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Met125Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met147Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met62Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Phe324Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe552Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro311Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro393Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro445Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro474Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Ser217Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Thr113Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Thr495Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Thr528Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val131Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val15Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val173Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val231Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Val248Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Val36Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Val411Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Val522Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala146Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala164Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala168Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala216Val Uncertain significance Single submitter
SLC13A5 p.Ala268Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala33Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala345Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala39Val Uncertain significance Single submitter
SLC13A5 p.Ala442Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Ala446Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala4Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala543Ser Uncertain significance Single submitter
SLC13A5 p.Ala57Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg102Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg123Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg37Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg380Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg387Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg76Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn238Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn294Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn486Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn545Lys Uncertain significance Single submitter
SLC13A5 p.Asp174Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asp246Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asp334Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asp334Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asp74Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Cys322Tyr Uncertain significance Single submitter
SLC13A5 p.Cys494Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Gln77Lys Uncertain significance Single submitter
SLC13A5 p.Glu167Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Glu239Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Glu239Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Glu239Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Glu295Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Glu348Lys Uncertain significance Single submitter
SLC13A5 p.Glu384Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Glu567Asp Uncertain significance Single submitter
SLC13A5 p.Gly130Ser Uncertain significance Single submitter
SLC13A5 p.Gly176Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly190Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly190Val Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Gly194Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly220Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly226Arg Uncertain significance Single submitter
SLC13A5 p.Gly417Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Gly484Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly529Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly536Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly548Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.His441Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Ile109Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile109Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile151Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile317Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile369Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile42Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile475Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile490Val Uncertain significance Single submitter
SLC13A5 p.Ile531Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ile54Asn Uncertain significance Single submitter
SLC13A5 p.Ile72Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu17Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu210Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu24Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Leu366Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu414Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu420Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu420Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu454Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu471Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu485Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu485Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu488Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu520Val Uncertain significance Single submitter
SLC13A5 p.Leu65Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Leu89Pro Uncertain significance Single submitter
SLC13A5 p.Leu91Arg Uncertain significance Single submitter
SLC13A5 p.Leu91Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Lys120Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Lys376Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Lys376Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Lys388Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Lys400Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met277Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met437Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met479Val Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Met491Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met503Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met525Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met83Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met88Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met88Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe14Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe18Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Phe250Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe254Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe324Val Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 59

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

SLC13A5 p.Ala215Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala251Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Ala297Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala315Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Ala315Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg333Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg481Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn533Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asp356Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Cys211Arg Uncertain significance Multiple submitters
SLC13A5 p.Glu425Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly93Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Leu450Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro445Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val466Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC13A5 p.Val514Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val98Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala119Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala222Ser Uncertain significance Single submitter
SLC13A5 p.Ala222Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala315Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala4Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ala507Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg112Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg112His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Arg201Trp Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Arg307Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Asn249Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Asp85Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Cys539Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gln81His Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Glu171Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Gly409Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Leu24Val Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Leu262Pro Conflicting Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu30Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu414Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu520Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Leu61Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC13A5 p.Lys400Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met261Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met45Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met479Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Met503Leu Uncertain significance Single submitter
SLC13A5 p.Phe128Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe241Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Phe472Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro121Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro21Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro407Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Pro444Ser Conflicting Single submitter
Inborn genetic diseases
SLC13A5 p.Ser480Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Ser482Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Thr142Ala Uncertain significance Single submitter
SLC13A5-related disorder
SLC13A5 p.Thr365Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Thr564Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val149Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val301Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25
SLC13A5 p.Val363Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 25

All SLC13A5 variants

Pathogenic 27

p.Ile410fs Multiple submitters SLC13A5-related disorder
p.Pro407fs Multiple submitters SLC13A5-related disorder
p.Trp103Ter Multiple submitters developmental and epileptic encephalopathy, 25
c.1056-1G>C Single submitter developmental and epileptic encephalopathy, 25
c.1157-1G>T Single submitter
c.232-2A>G Single submitter developmental and epileptic encephalopathy, 25
p.Ala216fs Single submitter developmental and epileptic encephalopathy, 25
p.Ala501fs Single submitter developmental and epileptic encephalopathy, 25
p.Gln373fs Single submitter developmental and epileptic encephalopathy, 25
p.Gln373Ter Single submitter developmental and epileptic encephalopathy, 25
p.Glu171fs Single submitter
p.Ile29fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu312fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu366fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu454fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu471fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu492fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu496fs Single submitter developmental and epileptic encephalopathy, 25
p.Ser372Ter Single submitter
p.Ser6fs Single submitter developmental and epileptic encephalopathy, 25
p.Thr132fs Single submitter developmental and epileptic encephalopathy, 25
p.Trp138Ter Single submitter developmental and epileptic encephalopathy, 25
p.Trp253Ter Single submitter developmental and epileptic encephalopathy, 25
p.Trp269Ter Single submitter developmental and epileptic encephalopathy, 25
p.Trp271Ter Single submitter developmental and epileptic encephalopathy, 25
p.Val80fs Single submitter developmental and epileptic encephalopathy, 25
p.Asp524His No assertion criteria developmental and epileptic encephalopathy, 25

Pathogenic/Likely pathogenic 8

c.1276-1G>A Multiple submitters developmental and epileptic encephalopathy, 25
p.Arg333Ter Multiple submitters Inborn genetic diseases
p.Gly219Arg Multiple submitters SLC13A5-related disorder
p.Ser381fs Multiple submitters developmental and epileptic encephalopathy, 25
p.Ser427Leu Multiple submitters SLC13A5-related disorder
p.Thr142Met Multiple submitters developmental and epileptic encephalopathy, 25
p.Thr227Met Multiple submitters developmental and epileptic encephalopathy, 25
p.Trp341Ter Multiple submitters SLC13A5-related disorder

Likely pathogenic 25

c.548-1G>A Multiple submitters developmental and epileptic encephalopathy, 25
c.548-2A>G Multiple submitters developmental and epileptic encephalopathy, 25
p.Leu488Pro Multiple submitters SLC13A5-related disorder
c.103-1G>A Single submitter developmental and epileptic encephalopathy, 25
c.1156+1_1156+5del Single submitter developmental and epileptic encephalopathy, 25
c.1156+1G>A Single submitter developmental and epileptic encephalopathy, 25
c.1437+1G>A Single submitter developmental and epileptic encephalopathy, 25
c.1437+1G>T Single submitter developmental and epileptic encephalopathy, 25
c.1438-1G>A Single submitter developmental and epileptic encephalopathy, 25
c.1438-2A>G Single submitter developmental and epileptic encephalopathy, 25
c.839+1G>A Single submitter developmental and epileptic encephalopathy, 25
c.840-2A>G Single submitter developmental and epileptic encephalopathy, 25
p.Asn141fs Single submitter SLC13A5-related disorder
p.Gly416fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu420fs Single submitter developmental and epileptic encephalopathy, 25
p.Leu492Pro Single submitter developmental and epileptic encephalopathy, 25
p.Pro68Ser Single submitter developmental and epileptic encephalopathy, 25
p.Ser499Phe Single submitter developmental and epileptic encephalopathy, 25
p.Thr142fs Single submitter developmental and epileptic encephalopathy, 25
p.Thr460Asn Single submitter developmental and epileptic encephalopathy, 25
p.Tyr353_Val354delinsTer Single submitter developmental and epileptic encephalopathy, 25
c.231+2T>G No assertion criteria Global developmental delay
c.368+1G>A No assertion criteria developmental and epileptic encephalopathy, 25
p.Gly484fs No assertion criteria Epileptic encephalopathy
p.Leu111Arg No assertion criteria Epileptic encephalopathy

Conflicting classifications of pathogenicity 27

c.1156+20C>T Single submitter developmental and epileptic encephalopathy, 25
c.1576-4C>G Single submitter Inborn genetic diseases
c.231+6C>A Single submitter developmental and epileptic encephalopathy, 25
c.369-2A>G Single submitter developmental and epileptic encephalopathy, 25
c.716+5G>A Single submitter developmental and epileptic encephalopathy, 25
p.Ala119= Single submitter developmental and epileptic encephalopathy, 25
p.Arg102His Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg201Trp Single submitter Inborn genetic diseases ⚠
p.Arg380Cys Single submitter Inborn genetic diseases ⚠
p.Arg380His Single submitter Inborn genetic diseases ⚠
p.Arg481His Single submitter Inborn genetic diseases ⚠
p.Asn238= Single submitter developmental and epileptic encephalopathy, 25
p.Gly169Ser Single submitter Inborn genetic diseases ⚠
p.His106Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile410= Single submitter Inborn genetic diseases
p.Leu134= Single submitter
p.Leu262Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu504fs Single submitter developmental and epileptic encephalopathy, 25
p.Pro444Ser Single submitter Inborn genetic diseases ⚠
p.Pro487Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro505Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Trp346Leu Single submitter Inborn genetic diseases ⚠
p.Val431Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val431Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val456Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val458Met Single submitter Inborn genetic diseases ⚠
p.Val96Met Single submitter Inborn genetic diseases ⚠

Benign 54

c.102+101G>C Multiple submitters
c.102+24C>T Multiple submitters
c.1156+170T>C Multiple submitters
c.1157-68GT[18] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[21] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[22] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[25] Multiple submitters developmental and epileptic encephalopathy, 25
c.1276-63C>T Multiple submitters
c.1437+176A>G Multiple submitters
c.1437+84G>A Multiple submitters
c.1438-113T>A Multiple submitters
c.1438-164G>A Multiple submitters
c.1438-82A>G Multiple submitters
c.1576-226A>G Multiple submitters
c.369-14C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.369-60C>T Multiple submitters
c.547+47C>T Multiple submitters
c.548-119G>A Multiple submitters
c.548-80G>A Multiple submitters
c.716+11G>C Multiple submitters developmental and epileptic encephalopathy, 25
c.717-16C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.840-105A>G Multiple submitters
c.840-28G>A Multiple submitters
c.-17A>C Multiple submitters
c.-5G>C Multiple submitters developmental and epileptic encephalopathy, 25
c.*176T>A Multiple submitters
c.*315G>A Multiple submitters
c.*31T>C Multiple submitters
p.Ala364= Multiple submitters Inborn genetic diseases
p.Pro335= Multiple submitters Inborn genetic diseases
c.102+232G>A Single submitter
c.103-226G>C Single submitter
c.1056-262T>C Single submitter
c.1275+115C>T Single submitter
c.1275+204A>G Single submitter
c.1275+232A>G Single submitter
c.1276-318G>A Single submitter
c.231+46CT[2] Single submitter
c.369-148C>T Single submitter
c.547+165dup Single submitter
c.547+179C>T Single submitter
c.547+202G>A Single submitter
c.547+221C>A Single submitter
c.547+264T>C Single submitter
c.547+272T>G Single submitter
c.547+304C>T Single submitter
c.548-291G>A Single submitter
c.548-292C>T Single submitter
c.717-263A>C Single submitter
c.717-312C>T Single submitter
c.717-335G>C Single submitter
c.839+285C>G Single submitter
c.840-115G>A Single submitter
c.840-225G>A Single submitter

Benign/Likely benign 11

c.1157-68GT[20] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[24] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[27] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[28] Multiple submitters developmental and epileptic encephalopathy, 25
c.232-11C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.232-14G>A Multiple submitters developmental and epileptic encephalopathy, 25
c.716+11_716+21del Multiple submitters developmental and epileptic encephalopathy, 25
p.Asn465= Multiple submitters Inborn genetic diseases
p.Phe267= Multiple submitters developmental and epileptic encephalopathy, 25
p.Tyr40= Multiple submitters developmental and epileptic encephalopathy, 25
p.Val359= Multiple submitters Inborn genetic diseases

Likely benign 337

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

c.103-15G>A Multiple submitters developmental and epileptic encephalopathy, 25
c.103-61T>C Multiple submitters
c.1055+15C>A Multiple submitters developmental and epileptic encephalopathy, 25
c.1055+16A>C Multiple submitters developmental and epileptic encephalopathy, 25
c.1056-33T>C Multiple submitters
c.1156+9C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-4C>A Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[16] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[17] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[19] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[23] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[29] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[30] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[31] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[32] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[33] Multiple submitters developmental and epileptic encephalopathy, 25
c.1157-68GT[34] Multiple submitters developmental and epileptic encephalopathy, 25
c.1276-17C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.1276-19C>A Multiple submitters developmental and epileptic encephalopathy, 25
c.1437+15del Multiple submitters developmental and epileptic encephalopathy, 25
c.1438-4G>A Multiple submitters Inborn genetic diseases
c.1438-56G>A Multiple submitters
c.1575+28G>A Multiple submitters
c.1576-13G>A Multiple submitters developmental and epileptic encephalopathy, 25
c.232-15C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.232-8C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.369-12C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.369-17C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.369-19C>G Multiple submitters developmental and epileptic encephalopathy, 25
c.369-304A>G Multiple submitters
c.548-17C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.716+15G>A Multiple submitters developmental and epileptic encephalopathy, 25
c.716+8C>T Multiple submitters developmental and epileptic encephalopathy, 25
c.-84C>T Multiple submitters
p.Ala168= Multiple submitters Inborn genetic diseases
p.Ala257= Multiple submitters Inborn genetic diseases
p.Ala315= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ala457= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ala543= Multiple submitters developmental and epileptic encephalopathy, 25
p.Arg201= Multiple submitters Inborn genetic diseases
p.Asn230= Multiple submitters developmental and epileptic encephalopathy, 25
p.Asn294= Multiple submitters developmental and epileptic encephalopathy, 25
p.Asp334= Multiple submitters developmental and epileptic encephalopathy, 25
p.Cys79= Multiple submitters developmental and epileptic encephalopathy, 25
p.Glu153= Multiple submitters developmental and epileptic encephalopathy, 25
p.Gly130= Multiple submitters developmental and epileptic encephalopathy, 25
p.Gly416= Multiple submitters Inborn genetic diseases
p.Gly92= Multiple submitters developmental and epileptic encephalopathy, 25
p.His441= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ile109= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ile151= Multiple submitters Inborn genetic diseases
p.Ile218= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ile483= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ile95= Multiple submitters Inborn genetic diseases
p.Leu105= Multiple submitters developmental and epileptic encephalopathy, 25
p.Leu23= Multiple submitters Inborn genetic diseases
p.Leu240= Multiple submitters Inborn genetic diseases
p.Leu247= Multiple submitters developmental and epileptic encephalopathy, 25
p.Leu309= Multiple submitters developmental and epileptic encephalopathy, 25
p.Leu455= Multiple submitters developmental and epileptic encephalopathy, 25
p.Leu520= Multiple submitters Inborn genetic diseases
p.Lys107= Multiple submitters Inborn genetic diseases
p.Phe314= Multiple submitters developmental and epileptic encephalopathy, 25
p.Phe379= Multiple submitters developmental and epileptic encephalopathy, 25
p.Phe67= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ser291= Multiple submitters Inborn genetic diseases
p.Ser355= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ser424= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ser427= Multiple submitters developmental and epileptic encephalopathy, 25
p.Ser6= Multiple submitters Inborn genetic diseases
p.Thr221= Multiple submitters Inborn genetic diseases
p.Thr227= Multiple submitters Inborn genetic diseases
p.Thr365= Multiple submitters Inborn genetic diseases
p.Thr402= Multiple submitters developmental and epileptic encephalopathy, 25
p.Thr495= Multiple submitters Inborn genetic diseases
p.Thr528= Multiple submitters developmental and epileptic encephalopathy, 25
p.Tyr214= Multiple submitters developmental and epileptic encephalopathy, 25
p.Tyr48= Multiple submitters Inborn genetic diseases
c.102+11T>A Single submitter developmental and epileptic encephalopathy, 25
c.102+13del Single submitter developmental and epileptic encephalopathy, 25
c.102+19C>A Single submitter developmental and epileptic encephalopathy, 25
c.102+20A>G Single submitter developmental and epileptic encephalopathy, 25
c.102+8G>C Single submitter developmental and epileptic encephalopathy, 25
c.102+9C>T Single submitter developmental and epileptic encephalopathy, 25
c.103-10G>A Single submitter developmental and epileptic encephalopathy, 25
c.103-14G>A Single submitter developmental and epileptic encephalopathy, 25
c.103-20C>G Single submitter developmental and epileptic encephalopathy, 25
c.1055+10G>A Single submitter developmental and epileptic encephalopathy, 25
c.1055+12A>G Single submitter developmental and epileptic encephalopathy, 25
c.1055+14T>G Single submitter developmental and epileptic encephalopathy, 25
c.1055+17A>G Single submitter developmental and epileptic encephalopathy, 25
c.1055+18T>C Single submitter developmental and epileptic encephalopathy, 25
c.1055+89G>C Single submitter
c.1056-15C>A Single submitter developmental and epileptic encephalopathy, 25
c.1056-290C>T Single submitter
c.1056-3dup Single submitter developmental and epileptic encephalopathy, 25
c.1056-4C>A Single submitter developmental and epileptic encephalopathy, 25
c.1056-5C>T Single submitter developmental and epileptic encephalopathy, 25
c.1056-6A>G Single submitter developmental and epileptic encephalopathy, 25
c.1156+10C>T Single submitter developmental and epileptic encephalopathy, 25
c.1156+11T>G Single submitter developmental and epileptic encephalopathy, 25
c.1156+15C>G Single submitter developmental and epileptic encephalopathy, 25
c.1156+20C>A Single submitter developmental and epileptic encephalopathy, 25
c.1156+34G>A Single submitter
c.1156+7C>A Single submitter developmental and epileptic encephalopathy, 25
c.1157-153T>G Single submitter
c.1157-16T>G Single submitter developmental and epileptic encephalopathy, 25
c.1157-17_1157-16insTGTGTGT Single submitter developmental and epileptic encephalopathy, 25
c.1157-179A>T Single submitter
c.1157-19_1157-18insTGTA Single submitter developmental and epileptic encephalopathy, 25
c.1157-204T>C Single submitter
c.1157-5C>T Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[12] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[13] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[14] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[15] Single submitter
c.1157-68GT[35] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[36] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[38] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[8] Single submitter developmental and epileptic encephalopathy, 25
c.1157-68GT[9] Single submitter developmental and epileptic encephalopathy, 25
c.1275+151A>T Single submitter
c.1275+15C>T Single submitter developmental and epileptic encephalopathy, 25
c.1275+7T>C Single submitter developmental and epileptic encephalopathy, 25
c.1275+9_1275+70del Single submitter developmental and epileptic encephalopathy, 25
c.1275+9T>A Single submitter developmental and epileptic encephalopathy, 25
c.1276-11G>A Single submitter developmental and epileptic encephalopathy, 25
c.1276-151G>A Single submitter
c.1276-15C>T Single submitter developmental and epileptic encephalopathy, 25
c.1276-9G>T Single submitter developmental and epileptic encephalopathy, 25
c.1437+11T>C Single submitter developmental and epileptic encephalopathy, 25
c.1437+18G>A Single submitter developmental and epileptic encephalopathy, 25
c.1437+20G>A Single submitter developmental and epileptic encephalopathy, 25
c.1437+20G>C Single submitter developmental and epileptic encephalopathy, 25
c.1437+280C>T Single submitter
c.1437+9C>T Single submitter developmental and epileptic encephalopathy, 25
c.1438-18del Single submitter developmental and epileptic encephalopathy, 25
c.1438-19C>T Single submitter developmental and epileptic encephalopathy, 25
c.1438-20G>A Single submitter developmental and epileptic encephalopathy, 25
c.1438-5C>T Single submitter developmental and epileptic encephalopathy, 25
c.1438-7T>C Single submitter developmental and epileptic encephalopathy, 25
c.1575+10C>A Single submitter developmental and epileptic encephalopathy, 25
c.1575+12G>A Single submitter developmental and epileptic encephalopathy, 25
c.1575+40C>T Single submitter
c.1575+8A>G Single submitter developmental and epileptic encephalopathy, 25
c.1576-20T>A Single submitter developmental and epileptic encephalopathy, 25
c.231+12C>T Single submitter developmental and epileptic encephalopathy, 25
c.231+20C>G Single submitter developmental and epileptic encephalopathy, 25
c.231+20C>T Single submitter developmental and epileptic encephalopathy, 25
c.232-4C>A Single submitter developmental and epileptic encephalopathy, 25
c.232-5T>A Single submitter developmental and epileptic encephalopathy, 25
c.232-7G>A Single submitter developmental and epileptic encephalopathy, 25
c.232-8_232-7delinsTA Single submitter developmental and epileptic encephalopathy, 25
c.368+12T>C Single submitter developmental and epileptic encephalopathy, 25
c.368+15T>C Single submitter developmental and epileptic encephalopathy, 25
c.368+16C>G Single submitter developmental and epileptic encephalopathy, 25
c.368+214C>T Single submitter
c.368+8C>T Single submitter developmental and epileptic encephalopathy, 25
c.368+9G>A Single submitter developmental and epileptic encephalopathy, 25
c.368+9G>T Single submitter developmental and epileptic encephalopathy, 25
c.369-11C>G Single submitter developmental and epileptic encephalopathy, 25
c.369-13C>T Single submitter developmental and epileptic encephalopathy, 25
c.369-15G>A Single submitter developmental and epileptic encephalopathy, 25
c.369-18C>T Single submitter developmental and epileptic encephalopathy, 25
c.369-8C>A Single submitter
c.369-9C>A Single submitter developmental and epileptic encephalopathy, 25
c.547+15A>G Single submitter developmental and epileptic encephalopathy, 25
c.547+19C>T Single submitter developmental and epileptic encephalopathy, 25
c.547+8C>T Single submitter developmental and epileptic encephalopathy, 25
c.547+9C>T Single submitter developmental and epileptic encephalopathy, 25
c.548-10C>T Single submitter developmental and epileptic encephalopathy, 25
c.548-11G>C Single submitter developmental and epileptic encephalopathy, 25
c.548-13G>C Single submitter developmental and epileptic encephalopathy, 25
c.548-14T>G Single submitter developmental and epileptic encephalopathy, 25
c.548-16G>A Single submitter developmental and epileptic encephalopathy, 25
c.548-16G>T Single submitter developmental and epileptic encephalopathy, 25
c.548-17C>A Single submitter developmental and epileptic encephalopathy, 25
c.548-19del Single submitter developmental and epileptic encephalopathy, 25
c.548-20C>T Single submitter developmental and epileptic encephalopathy, 25
c.716+102C>T Single submitter
c.716+11G>A Single submitter developmental and epileptic encephalopathy, 25
c.716+11G>T Single submitter developmental and epileptic encephalopathy, 25
c.716+14C>A Single submitter developmental and epileptic encephalopathy, 25
c.716+14C>T Single submitter developmental and epileptic encephalopathy, 25
c.716+15G>T Single submitter developmental and epileptic encephalopathy, 25
c.716+18C>A Single submitter developmental and epileptic encephalopathy, 25
c.716+198C>A Single submitter
c.716+19C>T Single submitter developmental and epileptic encephalopathy, 25
c.716+283G>T Single submitter
c.717-18G>T Single submitter developmental and epileptic encephalopathy, 25
c.717-20G>A Single submitter developmental and epileptic encephalopathy, 25
c.717-4G>A Single submitter developmental and epileptic encephalopathy, 25
c.717-6T>C Single submitter developmental and epileptic encephalopathy, 25
c.839+12C>G Single submitter developmental and epileptic encephalopathy, 25
c.839+13T>G Single submitter developmental and epileptic encephalopathy, 25
c.839+16T>C Single submitter developmental and epileptic encephalopathy, 25
c.839+18A>G Single submitter developmental and epileptic encephalopathy, 25
c.839+7T>G Single submitter developmental and epileptic encephalopathy, 25
c.839+8T>C Single submitter developmental and epileptic encephalopathy, 25
c.840-134C>A Single submitter
c.840-265A>C Single submitter
c.840-7T>C Single submitter
c.840-90A>G Single submitter
c.840-9A>G Single submitter developmental and epileptic encephalopathy, 25
c.-161C>G Single submitter
c.-39C>T Single submitter
p.Ala122= Single submitter developmental and epileptic encephalopathy, 25
p.Ala2= Single submitter developmental and epileptic encephalopathy, 25
p.Ala215= Single submitter developmental and epileptic encephalopathy, 25
p.Ala215Ser Single submitter Inborn genetic diseases
p.Ala216= Single submitter developmental and epileptic encephalopathy, 25
p.Ala222= Single submitter developmental and epileptic encephalopathy, 25
p.Ala298= Single submitter developmental and epileptic encephalopathy, 25
p.Ala357= Single submitter developmental and epileptic encephalopathy, 25
p.Ala447= Single submitter developmental and epileptic encephalopathy, 25
p.Ala498= Single submitter developmental and epileptic encephalopathy, 25
p.Ala512= Single submitter developmental and epileptic encephalopathy, 25
p.Ala57= Single submitter developmental and epileptic encephalopathy, 25
p.Ala97= Single submitter developmental and epileptic encephalopathy, 25
p.Arg203= Single submitter developmental and epileptic encephalopathy, 25
p.Asn104= Single submitter developmental and epileptic encephalopathy, 25
p.Asn260= Single submitter developmental and epileptic encephalopathy, 25
p.Asn318= Single submitter developmental and epileptic encephalopathy, 25
p.Asn562= Single submitter
p.Asp174= Single submitter developmental and epileptic encephalopathy, 25
p.Asp356= Single submitter developmental and epileptic encephalopathy, 25
p.Cys287= Single submitter developmental and epileptic encephalopathy, 25
p.Gln157= Single submitter developmental and epileptic encephalopathy, 25
p.Gln185= Single submitter developmental and epileptic encephalopathy, 25
p.Glu101= Single submitter developmental and epileptic encephalopathy, 25
p.Glu239= Single submitter developmental and epileptic encephalopathy, 25
p.Glu384= Single submitter developmental and epileptic encephalopathy, 25
p.Glu461= Single submitter developmental and epileptic encephalopathy, 25
p.Glu52= Single submitter
p.Gly183= Single submitter developmental and epileptic encephalopathy, 25
p.Gly190= Single submitter developmental and epileptic encephalopathy, 25
p.Gly194= Single submitter developmental and epileptic encephalopathy, 25
p.Gly219= Single submitter developmental and epileptic encephalopathy, 25
p.Gly235= Single submitter developmental and epileptic encephalopathy, 25
p.Gly286= Single submitter developmental and epileptic encephalopathy, 25
p.Gly288= Single submitter developmental and epileptic encephalopathy, 25
p.Gly415= Single submitter developmental and epileptic encephalopathy, 25
p.Gly93= Single submitter developmental and epileptic encephalopathy, 25
p.His106= Single submitter developmental and epileptic encephalopathy, 25
p.Ile139= Single submitter developmental and epileptic encephalopathy, 25
p.Ile16= Single submitter developmental and epileptic encephalopathy, 25
p.Ile187= Single submitter developmental and epileptic encephalopathy, 25
p.Ile317= Single submitter developmental and epileptic encephalopathy, 25
p.Ile566= Single submitter developmental and epileptic encephalopathy, 25
p.Leu114= Single submitter developmental and epileptic encephalopathy, 25
p.Leu126= Single submitter developmental and epileptic encephalopathy, 25
p.Leu156= Single submitter developmental and epileptic encephalopathy, 25
p.Leu172= Single submitter developmental and epileptic encephalopathy, 25
p.Leu22= Single submitter developmental and epileptic encephalopathy, 25
p.Leu233= Single submitter developmental and epileptic encephalopathy, 25
p.Leu234= Single submitter developmental and epileptic encephalopathy, 25
p.Leu24= Single submitter developmental and epileptic encephalopathy, 25
p.Leu265= Single submitter developmental and epileptic encephalopathy, 25
p.Leu266= Single submitter developmental and epileptic encephalopathy, 25
p.Leu272= Single submitter developmental and epileptic encephalopathy, 25
p.Leu30= Single submitter developmental and epileptic encephalopathy, 25
p.Leu302= Single submitter developmental and epileptic encephalopathy, 25
p.Leu329= Single submitter developmental and epileptic encephalopathy, 25
p.Leu366= Single submitter developmental and epileptic encephalopathy, 25
p.Leu367= Single submitter developmental and epileptic encephalopathy, 25
p.Leu396= Single submitter developmental and epileptic encephalopathy, 25
p.Leu397= Single submitter developmental and epileptic encephalopathy, 25
p.Leu413= Single submitter developmental and epileptic encephalopathy, 25
p.Leu414= Single submitter developmental and epileptic encephalopathy, 25
p.Leu44= Single submitter developmental and epileptic encephalopathy, 25
p.Leu440= Single submitter developmental and epileptic encephalopathy, 25
p.Leu450= Single submitter developmental and epileptic encephalopathy, 25
p.Leu452= Single submitter developmental and epileptic encephalopathy, 25
p.Leu485= Single submitter Inborn genetic diseases
p.Leu488= Single submitter developmental and epileptic encephalopathy, 25
p.Leu504= Single submitter developmental and epileptic encephalopathy, 25
p.Leu542= Single submitter developmental and epileptic encephalopathy, 25
p.Leu56= Single submitter developmental and epileptic encephalopathy, 25
p.Leu69= Single submitter developmental and epileptic encephalopathy, 25
p.Leu89= Single submitter developmental and epileptic encephalopathy, 25
p.Leu91= Single submitter developmental and epileptic encephalopathy, 25
p.Lys283= Single submitter developmental and epileptic encephalopathy, 25
p.Lys292= Single submitter developmental and epileptic encephalopathy, 25
p.Lys521= Single submitter developmental and epileptic encephalopathy, 25
p.Lys84= Single submitter developmental and epileptic encephalopathy, 25
p.Phe250= Single submitter developmental and epileptic encephalopathy, 25
p.Phe274= Single submitter developmental and epileptic encephalopathy, 25
p.Phe476= Single submitter developmental and epileptic encephalopathy, 25
p.Pro150= Single submitter developmental and epileptic encephalopathy, 25
p.Pro21= Single submitter
p.Pro339= Single submitter developmental and epileptic encephalopathy, 25
p.Pro371= Single submitter developmental and epileptic encephalopathy, 25
p.Pro375= Single submitter developmental and epileptic encephalopathy, 25
p.Pro393= Single submitter developmental and epileptic encephalopathy, 25
p.Pro394= Single submitter developmental and epileptic encephalopathy, 25
p.Pro407= Single submitter developmental and epileptic encephalopathy, 25
p.Pro445= Single submitter developmental and epileptic encephalopathy, 25
p.Pro474= Single submitter developmental and epileptic encephalopathy, 25
p.Pro487= Single submitter developmental and epileptic encephalopathy, 25
p.Pro510= Single submitter developmental and epileptic encephalopathy, 25

Uncertain significance 297

c.-5G>A Multiple submitters developmental and epileptic encephalopathy, 25
p.Ala168Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala215Thr Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ala215Val Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ala251Val Multiple submitters Inborn genetic diseases ⚠
p.Ala297Thr Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala315Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala315Val Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ala543Asp Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ala97Thr Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Arg123Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg201Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg203Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg307Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg307Gly Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Arg333Gln Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Arg481Cys Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Arg549Gln Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Arg549Trp Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Asn104Lys Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Asn238Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn249Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn533Lys Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Asp356Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys211Arg Multiple submitters ⚠
p.Glu167Lys Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Glu425Lys Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Gly190Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly288Arg Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Gly336Ser Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Gly434Arg Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Gly93Ser Multiple submitters Inborn genetic diseases ⚠
p.His565_Ile566insTer Multiple submitters developmental and epileptic encephalopathy, 25
p.Ile483Val Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ile534Met Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Ile534Val Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Leu156Phe Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Leu302Arg Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Leu429Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu450Ser Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Leu455Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys107Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys293Glu Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Lys388Arg Multiple submitters Inborn genetic diseases ⚠
p.Met125Arg Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Met147Ile Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Met433Thr Multiple submitters developmental and epileptic encephalopathy, 25
p.Met62Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe324Leu Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Phe331Ile Multiple submitters Inborn genetic diseases
p.Phe552Ile Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Pro311Ser Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Pro393Leu Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Pro445Leu Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Pro445Thr Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Pro474Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser217Asn Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Thr113Met Multiple submitters Inborn genetic diseases ⚠
p.Thr144_Ala146del Multiple submitters developmental and epileptic encephalopathy, 25
p.Thr145Met Multiple submitters developmental and epileptic encephalopathy, 25
p.Thr162dup Multiple submitters developmental and epileptic encephalopathy, 25
p.Thr225Ile Multiple submitters developmental and epileptic encephalopathy, 25
p.Thr495Ile Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Thr528Ala Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Val131Ile Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Val15Met Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Val173Met Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Val231Met Multiple submitters Inborn genetic diseases ⚠
p.Val248Met Multiple submitters Inborn genetic diseases ⚠
p.Val36Ile Multiple submitters Inborn genetic diseases ⚠
p.Val411Met Multiple submitters Inborn genetic diseases ⚠
p.Val466Met Multiple submitters Inborn genetic diseases ⚠
p.Val514Ala Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Val522Ile Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
p.Val522Phe Multiple submitters Inborn genetic diseases
p.Val98Met Multiple submitters developmental and epileptic encephalopathy, 25 ⚠
c.1156+3A>G Single submitter developmental and epileptic encephalopathy, 25
c.1156+5G>A Single submitter developmental and epileptic encephalopathy, 25
c.1438-3C>A Single submitter developmental and epileptic encephalopathy, 25
c.1438-4G>T Single submitter developmental and epileptic encephalopathy, 25
c.1575+4A>T Single submitter developmental and epileptic encephalopathy, 25
c.1575+5C>T Single submitter developmental and epileptic encephalopathy, 25
c.547+6C>A Single submitter developmental and epileptic encephalopathy, 25
c.547+6C>T Single submitter developmental and epileptic encephalopathy, 25
c.839+4A>C Single submitter developmental and epileptic encephalopathy, 25
c.839+8T>G Single submitter
p.97AV[3] Single submitter developmental and epileptic encephalopathy, 25
p.Ala119Asp Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala146Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala164Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala168Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala178_Lys179dup Single submitter
p.Ala207_Thr209dup Single submitter developmental and epileptic encephalopathy, 25
p.Ala216Val Single submitter ⚠
p.Ala222Ser Single submitter ⚠
p.Ala222Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala268Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala315Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala33Asp Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala345Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala39Val Single submitter ⚠
p.Ala442Thr Single submitter Inborn genetic diseases ⚠
p.Ala446Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala467Thr Single submitter Inborn genetic diseases
p.Ala46Val Single submitter developmental and epileptic encephalopathy, 25
p.Ala4Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala4Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala507Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ala543Ser Single submitter ⚠
p.Ala57Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg102Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg112Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg112His Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg123Gln Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg307Trp Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg37Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg380Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg387Gly Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Arg76Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asn230Ser Single submitter developmental and epileptic encephalopathy, 25
p.Asn238Asp Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asn249Lys Single submitter Inborn genetic diseases ⚠
p.Asn294Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asn318del Single submitter
p.Asn486Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asn545Lys Single submitter ⚠
p.Asp174Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asp246Gly Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asp334Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asp334Tyr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asp74Gly Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asp85Asn Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Asp85Gly Single submitter
p.Cys322Tyr Single submitter ⚠
p.Cys494Ser Single submitter Inborn genetic diseases ⚠
p.Cys539Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gln236Arg Single submitter developmental and epileptic encephalopathy, 25
p.Gln436_Leu440del Single submitter developmental and epileptic encephalopathy, 25
p.Gln77Lys Single submitter ⚠
p.Gln81His Single submitter Inborn genetic diseases ⚠
p.Glu167Gln Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Glu171Gly Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Glu239Asp Single submitter Inborn genetic diseases ⚠
p.Glu239Gly Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Glu239Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Glu295Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Glu348Lys Single submitter ⚠
p.Glu384Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Glu567Asp Single submitter ⚠
p.Gly130Ser Single submitter ⚠
p.Gly176Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly190Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly190Val Single submitter Inborn genetic diseases ⚠
p.Gly194Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly220Asp Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly226Arg Single submitter ⚠
p.Gly409Asp Single submitter Inborn genetic diseases ⚠
p.Gly417Arg Single submitter Inborn genetic diseases ⚠
p.Gly484Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly529Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly536Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Gly548Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.His441Tyr Single submitter Inborn genetic diseases ⚠
p.Ile109Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile109Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile151Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile317Phe Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile369Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile42Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile475Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile490Val Single submitter ⚠
p.Ile531Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ile54Asn Single submitter ⚠
p.Ile72Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu105Met Single submitter developmental and epileptic encephalopathy, 25
p.Leu17Phe Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu210Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu24Arg Single submitter Inborn genetic diseases ⚠
p.Leu24Val Single submitter Inborn genetic diseases ⚠
p.Leu30Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu366Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu414Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu414Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu420Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu420Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu454Phe Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu471Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu485Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu485Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu488Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu520Phe Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Leu520Val Single submitter ⚠
p.Leu61Ile Single submitter Inborn genetic diseases ⚠
p.Leu65Phe Single submitter Inborn genetic diseases ⚠
p.Leu89Pro Single submitter ⚠
p.Leu91Arg Single submitter ⚠
p.Leu91Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Lys120Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Lys34= Single submitter developmental and epileptic encephalopathy, 25
p.Lys376Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Lys376Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Lys388Glu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Lys400Gln Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Lys400Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met1Ile Single submitter developmental and epileptic encephalopathy, 25
p.Met208Thr Single submitter developmental and epileptic encephalopathy, 25
p.Met261Val Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met277Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met437Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met45Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met45Thr Single submitter developmental and epileptic encephalopathy, 25
p.Met479Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met479Val Single submitter Inborn genetic diseases ⚠
p.Met491Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met503Leu Single submitter ⚠
p.Met503Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met525Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met83Arg Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met88Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Met88Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe128Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe14Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe18Leu Single submitter Inborn genetic diseases ⚠
p.Phe241Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe250Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe254Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe324Val Single submitter Inborn genetic diseases ⚠
p.Phe391Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe418Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe472Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe541Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe541Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Phe70Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro121Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro121Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro21Ala Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro339Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro375His Single submitter Inborn genetic diseases ⚠
p.Pro394Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro395Thr Single submitter Inborn genetic diseases ⚠
p.Pro407Ser Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Pro445Ser Single submitter ⚠
p.Pro558Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser140Gly Single submitter
p.Ser163Gly Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser291Asn Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser291Cys Single submitter Inborn genetic diseases ⚠
p.Ser3Trp Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser430Phe Single submitter Inborn genetic diseases ⚠
p.Ser453Thr Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser480Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser482Phe Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser497Asn Single submitter ⚠
p.Ser60Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ser9Ala Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Ter569Gln Single submitter developmental and epileptic encephalopathy, 25
p.Thr142Ala Single submitter SLC13A5-related disorder ⚠
p.Thr145Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr166Ala Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr166Asn Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr20Ile Single submitter Inborn genetic diseases ⚠
p.Thr223Asn Single submitter Inborn genetic diseases ⚠
p.Thr351Lys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr365Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr365Pro Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr389Ala Single submitter ⚠
p.Thr389Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr468Asn Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr469Ala Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr495_Ser497del Single submitter developmental and epileptic encephalopathy, 25
p.Thr564Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Thr59_Val64del Single submitter developmental and epileptic encephalopathy, 25
p.Trp116Cys Single submitter ⚠
p.Trp269Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Trp560Ter Single submitter developmental and epileptic encephalopathy, 25
p.Tyr392Cys Single submitter Inborn genetic diseases ⚠
p.Tyr517fs Single submitter
p.Tyr7Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Tyr7Ter Single submitter Inborn genetic diseases
p.Tyr82Cys Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val131= Single submitter developmental and epileptic encephalopathy, 25
p.Val149Ala Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val149Met Single submitter ⚠
p.Val152Leu Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val152Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val186Met Single submitter ⚠
p.Val301Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val319Met Single submitter developmental and epileptic encephalopathy, 25
p.Val363Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val41Ile Single submitter Inborn genetic diseases ⚠
p.Val514Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val530Gly Single submitter ⚠
p.Val544Ala Single submitter ⚠
p.Val563Met Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val64Ile Single submitter developmental and epileptic encephalopathy, 25 ⚠
p.Val80Ala Single submitter developmental and epileptic encephalopathy, 25 ⚠