PLCB1 — 1205 ClinVar variants

All ClinVar germline PLCB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 390 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 48 Conflicting · 112 Benign · 28 Benign/Likely benign · 514 Likely benign · 474 Uncertain significance

Full PLCB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 390

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 12

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

PLCB1 p.Ala10Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala855Val Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Asn1178Ser Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Glu850Asp Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.His1195Arg Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Ile1039Thr Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Leu1184Phe Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Pro1215Ser Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Thr785Met Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Thr857Met Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Val242Ile Conflicting Single submitter
Inborn genetic diseases
PLCB1 p.Val864Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 314

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 314

PLCB1 p.Ala1046Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala1046Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala1116Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala1182Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala155Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala78Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala890Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala965Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala970Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala995Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Arg1032Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg1132Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Arg1132His Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Arg222Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg257Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg297Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg297His Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Arg350His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg358His Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Arg97Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg97His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn217Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn281Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Asn562Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp513Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp514Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Asp943Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu1175Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu1202Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Glu302Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Glu577Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu751Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly25Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Gly305Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly478Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly478Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Gly863Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.His116Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ile1035Met Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ile1207Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ile407Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Leu1038Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Leu111Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Leu11Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Leu762Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Lys472Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Lys796Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Lys825Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Lys925Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Lys977Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Met1091Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Met1091Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Met1098Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Met1169Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Met456Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Met525Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Met525Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Met592Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Met639Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Met930Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Phe1212Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Phe1212Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Phe497Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Pro783Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Pro875Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Pro983Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ser236Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ser477Arg Uncertain significance Multiple submitters
PLCB1 p.Ser487Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ser501Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ser853Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Thr1043Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Thr1197Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Thr509Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Thr857Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Thr867Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Val292Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Val307Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Val571Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Val726Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala10Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala1116Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala1168Thr Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Ala138Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala143Thr Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Ala285Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala396Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala399Thr Uncertain significance Single submitter
PLCB1 p.Ala425Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala435Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala504Val Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Ala617Ser Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Ala712Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala72Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala748Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala851Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala851Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala884Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala890Ser Uncertain significance Single submitter
PLCB1 p.Arg1120Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg1132Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg176His Uncertain significance Single submitter
PLCB1 p.Arg222Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg286Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg297Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg368Trp Uncertain significance Single submitter
PLCB1 p.Arg603Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg657Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg760Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg760His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg815Gln Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Arg936Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn1018Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn113Tyr Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Asn1178Asp Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Asn1178Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn1194Ser Uncertain significance Single submitter
PLCB1 p.Asn218Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn332Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn488Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn562Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp1010Ala Uncertain significance Single submitter
PLCB1 p.Asp1189Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp1206Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp149Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp492Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp513Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp515Asn Uncertain significance Single submitter
PLCB1 p.Asp515Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp517Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp519Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp605Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp958Glu Uncertain significance Single submitter
PLCB1 p.Asp984Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln1003Glu Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Gln1134Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln123His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln204His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln204Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln268Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln272Arg Uncertain significance Single submitter
PLCB1 p.Gln548Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln57His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln5Glu Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Gln765Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln782His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu1048Asp Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Glu1114Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu1115Lys Uncertain significance Single submitter
PLCB1 p.Glu1130Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12

Predictors split 64

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

PLCB1 p.Arg1020Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg1020Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg768Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Asn724Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu153Val Benign/Likely benign Multiple submitters
Inborn genetic diseases
PLCB1 p.Gly433Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ile261Val Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ser67Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Thr39Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Thr802Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PLCB1 p.Tyr1025Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PLCB1 p.Ala10Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ala1168Asp Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Ala127Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg1132Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg429Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Arg823Lys Uncertain significance Single submitter
PLCB1 p.Asp200Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Asp998His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Cys775Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gln5His Uncertain significance Single submitter
PLCB1 p.Glu1114Lys Uncertain significance Single submitter
PLCB1 p.Glu190Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu310Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu808Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Glu929Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly167Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly531Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly7Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Gly7Val Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Gly96Arg Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.His938Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.His948Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ile1080Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ile757Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ile767Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Leu1124Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Leu219Phe Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Leu66Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Leu922Phe Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Lys1063Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Lys160Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Lys660Asn Uncertain significance Single submitter
PLCB1 p.Lys951Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Met1072Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Met245Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Met930Ile Uncertain significance Single submitter
PLCB1 p.Met930Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Phe919Leu Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Pro81Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ser300Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Ser491Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Thr1002Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Thr695Ile Uncertain significance Single submitter
Inborn genetic diseases
PLCB1 p.Tyr1024Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Tyr1150Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Tyr816His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Tyr927His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Val106Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Val106Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Val1165Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Val817Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PLCB1 p.Val8Leu Uncertain significance Single submitter
PLCB1 p.His1128Tyr Pathogenic No assertion criteria
self-limited epilepsy with centrotemporal spikes

All PLCB1 variants

Pathogenic 13

c.1888+2T>C Single submitter
p.Arg1032Ter Single submitter developmental and epileptic encephalopathy, 12
p.Arg184Ter Single submitter
p.Arg561fs Single submitter developmental and epileptic encephalopathy, 12
p.Asp363fs Single submitter developmental and epileptic encephalopathy, 12
p.Gln719fs Single submitter developmental and epileptic encephalopathy, 12
p.Glu190fs Single submitter developmental and epileptic encephalopathy, 12
p.Glu538Ter Single submitter developmental and epileptic encephalopathy, 12
p.Lys1119fs Single submitter developmental and epileptic encephalopathy, 12
p.Lys889fs Single submitter developmental and epileptic encephalopathy, 12
p.Ser323fs Single submitter developmental and epileptic encephalopathy, 12
p.Tyr444Ter Single submitter
p.His1128Tyr No assertion criteria self-limited epilepsy with centrotemporal spikes ⚠

Pathogenic/Likely pathogenic 2

p.Arg222Ter Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg815Ter Multiple submitters developmental and epileptic encephalopathy, 12

Likely pathogenic 14

c.1168-1G>A Single submitter developmental and epileptic encephalopathy, 12
c.1514-1G>A Single submitter developmental and epileptic encephalopathy, 12
c.1763+2T>C Single submitter developmental and epileptic encephalopathy, 12
c.178-2A>G Single submitter developmental and epileptic encephalopathy, 12
c.1888+1G>A Single submitter developmental and epileptic encephalopathy, 12
c.2208+1G>A Single submitter developmental and epileptic encephalopathy, 12
c.2656+1G>T Single submitter developmental and epileptic encephalopathy, 12
c.464+1G>A Single submitter developmental and epileptic encephalopathy, 12
c.465-2A>C Single submitter developmental and epileptic encephalopathy, 12
c.862+1G>A Single submitter developmental and epileptic encephalopathy, 12
p.Arg213fs Single submitter developmental and epileptic encephalopathy, 12
p.Ser679fs Single submitter developmental and epileptic encephalopathy, 12
p.Trp727Arg Single submitter Abnormal brain morphology
p.Tyr349Ter Single submitter

Conflicting classifications of pathogenicity 48

c.1336-13T>C Single submitter developmental and epileptic encephalopathy, 12
c.1678+10C>T Single submitter developmental and epileptic encephalopathy, 12
c.1764-6G>C Single submitter developmental and epileptic encephalopathy, 12
c.1888+11G>A Single submitter developmental and epileptic encephalopathy, 12
c.2308+14G>C Single submitter developmental and epileptic encephalopathy, 12
c.246+12A>G Single submitter developmental and epileptic encephalopathy, 12
c.247-4C>T Single submitter Inborn genetic diseases
c.2657-4A>G Single submitter Inborn genetic diseases
c.2930+15T>C Single submitter developmental and epileptic encephalopathy, 12
c.3189-14C>T Single submitter developmental and epileptic encephalopathy, 12
c.3337-4A>G Single submitter developmental and epileptic encephalopathy, 12
c.-330C>T Single submitter developmental and epileptic encephalopathy, 12
p.Ala10Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala1116= Single submitter developmental and epileptic encephalopathy, 12
p.Ala396= Single submitter developmental and epileptic encephalopathy, 12
p.Ala855Val Single submitter Inborn genetic diseases ⚠
p.Arg709= Single submitter developmental and epileptic encephalopathy, 12
p.Asn1178Ser Single submitter Inborn genetic diseases ⚠
p.Gln272= Single submitter developmental and epileptic encephalopathy, 12
p.Gln627= Single submitter Inborn genetic diseases
p.Glu1149= Single submitter developmental and epileptic encephalopathy, 12
p.Glu556= Single submitter developmental and epileptic encephalopathy, 12
p.Glu850Asp Single submitter Inborn genetic diseases ⚠
p.Glu912= Single submitter developmental and epileptic encephalopathy, 12
p.Glu947= Single submitter Inborn genetic diseases
p.Gly618= Single submitter Inborn genetic diseases
p.Gly96= Single submitter developmental and epileptic encephalopathy, 12
p.His1195Arg Single submitter Inborn genetic diseases ⚠
p.His772= Single submitter developmental and epileptic encephalopathy, 12
p.Ile1039Thr Single submitter Inborn genetic diseases ⚠
p.Leu1184Phe Single submitter Inborn genetic diseases ⚠
p.Leu1203= Single submitter developmental and epileptic encephalopathy, 12
p.Leu152= Single submitter developmental and epileptic encephalopathy, 12
p.Leu704= Single submitter developmental and epileptic encephalopathy, 12
p.Leu745= Single submitter developmental and epileptic encephalopathy, 12
p.Phe497= Single submitter Inborn genetic diseases
p.Pro1215Ser Single submitter Inborn genetic diseases ⚠
p.Pro209= Single submitter Inborn genetic diseases
p.Pro238= Single submitter developmental and epileptic encephalopathy, 12
p.Ser410= Single submitter developmental and epileptic encephalopathy, 12
p.Thr785Met Single submitter Inborn genetic diseases ⚠
p.Thr857= Single submitter developmental and epileptic encephalopathy, 12
p.Thr857Met Single submitter Inborn genetic diseases ⚠
p.Tyr696= Single submitter Inborn genetic diseases
p.Val1045= Single submitter Inborn genetic diseases
p.Val242Ile Single submitter Inborn genetic diseases ⚠
p.Val587= Single submitter Inborn genetic diseases
p.Val864Met Single submitter Inborn genetic diseases ⚠

Benign 112

c.1009+26C>G Multiple submitters developmental and epileptic encephalopathy, 12
c.1009+68T>C Multiple submitters
c.1010-112C>G Multiple submitters
c.1167+124C>T Multiple submitters
c.1250+42T>C Multiple submitters
c.1251-189C>T Multiple submitters
c.1336-205A>C Multiple submitters
c.1513+70T>C Multiple submitters
c.1581+184C>T Multiple submitters
c.1581+77C>G Multiple submitters
c.1678+97A>C Multiple submitters
c.1679-29C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1679-56A>G Multiple submitters
c.1763+126A>G Multiple submitters
c.1889-43G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.2209-131G>A Multiple submitters
c.2524-83A>G Multiple submitters
c.2656+266C>A Multiple submitters
c.2657-27C>T Multiple submitters
c.2710+140C>T Multiple submitters
c.2710+81A>G Multiple submitters
c.3278+54T>C Multiple submitters
c.3279-35A>G Multiple submitters developmental and epileptic encephalopathy, 12
c.3279-57A>C Multiple submitters
c.3336+60G>A Multiple submitters
c.3336+96A>G Multiple submitters
c.3423+11976G>A Multiple submitters
c.3423+11993G>C Multiple submitters
c.3423+24A>C Multiple submitters developmental and epileptic encephalopathy, 12
c.3424-49A>G Multiple submitters
c.464+22G>A Multiple submitters
c.464+31G>T Multiple submitters
c.464+75C>T Multiple submitters
c.518+96G>A Multiple submitters
c.594+21A>G Multiple submitters
c.595-104G>A Multiple submitters
c.862+123C>A Multiple submitters
c.862+92T>C Multiple submitters
c.863-62del Multiple submitters
p.Leu1068= Multiple submitters Inborn genetic diseases
c.1009+241_1009+242del Single submitter
c.1010-228A>G Single submitter
c.1335+272C>G Single submitter
c.1513+142del Single submitter
c.1513+231del Single submitter
c.1514-134T>C Single submitter
c.1514-187dup Single submitter
c.1678+153A>T Single submitter
c.1763+163T>C Single submitter
c.2043+22del Single submitter developmental and epileptic encephalopathy, 12
c.2043+265G>A Single submitter
c.2043+286C>T Single submitter
c.2043+298A>G Single submitter
c.2043+305A>C Single submitter
c.2043+310A>G Single submitter
c.2044-149A>G Single submitter
c.2044-171T>C Single submitter
c.2208+205A>G Single submitter
c.246+37065T>A Single submitter
c.246+61947C>G Single submitter
c.246+61994A>G Single submitter
c.246+86963C>G Single submitter
c.246+87205G>A Single submitter
c.246+87207A>G Single submitter
c.246+87246T>C Single submitter
c.246+87271G>A Single submitter
c.2523+21del Single submitter developmental and epileptic encephalopathy, 12
c.2523+305A>G Single submitter
c.2524-227A>T Single submitter
c.2657-232G>T Single submitter
c.2710+22del Single submitter developmental and epileptic encephalopathy, 12
c.2930+120G>A Single submitter
c.2931-203C>A Single submitter
c.2931-282ATT[2] Single submitter
c.3111+171T>A Single submitter
c.3112-279T>C Single submitter
c.3278+152A>C Single submitter
c.3278+202C>T Single submitter
c.3279-216A>G Single submitter
c.3279-290G>A Single submitter
c.3336+294T>C Single submitter
c.3337-143C>T Single submitter
c.3423+12005dup Single submitter
c.3423+1733G>A Single submitter
c.3423+1853G>A Single submitter
c.3423+1929C>A Single submitter
c.3423+1966T>C Single submitter
c.3423+2247C>T Single submitter
c.3423+2387T>C Single submitter
c.3424-110_3424-107dup Single submitter
c.3424-263_3424-262insTGTGTGTGTGCG Single submitter
c.3424-263_3424-262insTGTGTGTGTGTGCG Single submitter
c.3424-293GT[13] Single submitter
c.3424-293GT[16] Single submitter
c.3424-293GT[17] Single submitter
c.3424-293GT[18] Single submitter
c.3424-293GT[19] Single submitter
c.384+225C>T Single submitter
c.519-164A>G Single submitter
c.519-178G>A Single submitter
c.519-214C>T Single submitter
c.594+157C>G Single submitter
c.594+228C>T Single submitter
c.695+302A>G Single submitter
c.863-261C>T Single submitter
c.863-63_863-62del Single submitter
c.*1551A>G Single submitter developmental and epileptic encephalopathy, 12
c.*1681T>C Single submitter
c.*1707A>G Single submitter
c.*1978_*1981dup Single submitter
c.*2510C>T Single submitter
p.Lys23Glu Single submitter developmental and epileptic encephalopathy, 12

Benign/Likely benign 28

c.1167+16G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1167+7T>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1251-4T>G Multiple submitters Inborn genetic diseases
c.1336-18G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1679-17G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.178-15G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.2309-15A>C Multiple submitters developmental and epileptic encephalopathy, 12
c.2413+9C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.2414-14T>G Multiple submitters developmental and epileptic encephalopathy, 12
c.2711-18C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.2930+20T>G Multiple submitters developmental and epileptic encephalopathy, 12
c.3188+8C>T Multiple submitters Inborn genetic diseases
c.99+8T>C Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala855= Multiple submitters Inborn genetic diseases
p.Ala996= Multiple submitters Inborn genetic diseases
p.Arg213Ser Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp34= Multiple submitters Inborn genetic diseases
p.Gln1040= Multiple submitters Inborn genetic diseases
p.Glu153Val Multiple submitters Inborn genetic diseases ⚠
p.Gly694= Multiple submitters Inborn genetic diseases
p.Leu1113= Multiple submitters Inborn genetic diseases
p.Leu194= Multiple submitters Inborn genetic diseases
p.Pro731Ala Multiple submitters Inborn genetic diseases
p.Pro891= Multiple submitters Inborn genetic diseases
p.Ser308= Multiple submitters Inborn genetic diseases
p.Thr989= Multiple submitters Inborn genetic diseases
p.Tyr490Cys Multiple submitters Inborn genetic diseases
p.Val733= Multiple submitters Inborn genetic diseases

Likely benign 514

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

c.100-17T>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1336-5A>G Multiple submitters developmental and epileptic encephalopathy, 12
c.1763+17G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1889-17G>T Multiple submitters developmental and epileptic encephalopathy, 12
c.2209-8C>G Multiple submitters developmental and epileptic encephalopathy, 12
c.247-162C>G Multiple submitters
c.2656+238G>A Multiple submitters
c.3111+120A>T Multiple submitters
c.3111+16A>C Multiple submitters developmental and epileptic encephalopathy, 12
c.3111+98G>A Multiple submitters
c.3423+11684C>T Multiple submitters
c.3423+12087C>A Multiple submitters
c.3423+151A>C Multiple submitters
c.3424-78T>C Multiple submitters
c.595-17G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.595-70A>G Multiple submitters
c.696-18G>T Multiple submitters developmental and epileptic encephalopathy, 12
c.99+14C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.*97A>G Multiple submitters
p.Ala188= Multiple submitters Inborn genetic diseases
p.Ala425= Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg1100= Multiple submitters Inborn genetic diseases
p.Asp512= Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp514= Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp515= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gln1013= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gln144= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gln956= Multiple submitters developmental and epileptic encephalopathy, 12
p.Glu1122= Multiple submitters developmental and epileptic encephalopathy, 12
p.Glu224= Multiple submitters Inborn genetic diseases
p.Glu439= Multiple submitters developmental and epileptic encephalopathy, 12
p.Glu794= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly685= Multiple submitters developmental and epileptic encephalopathy, 12
p.His414= Multiple submitters Inborn genetic diseases
p.Ile376= Multiple submitters Inborn genetic diseases
p.Ile945= Multiple submitters Inborn genetic diseases
p.Leu314= Multiple submitters Inborn genetic diseases
p.Leu66= Multiple submitters Inborn genetic diseases
p.Lys14= Multiple submitters Inborn genetic diseases
p.Phe570= Multiple submitters Inborn genetic diseases
p.Pro1140= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro195= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro6= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser115= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser330= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser595= Multiple submitters Inborn genetic diseases
p.Ser969= Multiple submitters Inborn genetic diseases
p.Thr241= Multiple submitters developmental and epileptic encephalopathy, 12
p.Tyr325= Multiple submitters Inborn genetic diseases
p.Val18= Multiple submitters developmental and epileptic encephalopathy, 12
p.Val38= Multiple submitters developmental and epileptic encephalopathy, 12
c.100-283G>A Single submitter
c.100-5del Single submitter developmental and epileptic encephalopathy, 12
c.1009+10T>C Single submitter developmental and epileptic encephalopathy, 12
c.1009+153C>T Single submitter
c.1009+7A>T Single submitter developmental and epileptic encephalopathy, 12
c.1010-12G>C Single submitter developmental and epileptic encephalopathy, 12
c.1010-15G>C Single submitter developmental and epileptic encephalopathy, 12
c.1010-16T>C Single submitter developmental and epileptic encephalopathy, 12
c.1010-19T>A Single submitter developmental and epileptic encephalopathy, 12
c.1010-4A>G Single submitter developmental and epileptic encephalopathy, 12
c.1010-5T>G Single submitter developmental and epileptic encephalopathy, 12
c.1167+10A>G Single submitter developmental and epileptic encephalopathy, 12
c.1167+11T>C Single submitter developmental and epileptic encephalopathy, 12
c.1167+14A>G Single submitter developmental and epileptic encephalopathy, 12
c.1167+9T>C Single submitter developmental and epileptic encephalopathy, 12
c.1168-156G>A Single submitter
c.1168-157C>T Single submitter
c.1168-16G>A Single submitter developmental and epileptic encephalopathy, 12
c.1168-16G>T Single submitter developmental and epileptic encephalopathy, 12
c.1168-17T>A Single submitter developmental and epileptic encephalopathy, 12
c.1168-17T>C Single submitter developmental and epileptic encephalopathy, 12
c.1168-19C>T Single submitter developmental and epileptic encephalopathy, 12
c.1168-20A>G Single submitter developmental and epileptic encephalopathy, 12
c.1168-33G>A Single submitter
c.1250+10C>T Single submitter developmental and epileptic encephalopathy, 12
c.1250+15C>T Single submitter developmental and epileptic encephalopathy, 12
c.1250+17T>A Single submitter developmental and epileptic encephalopathy, 12
c.1251-12G>A Single submitter developmental and epileptic encephalopathy, 12
c.1251-12G>T Single submitter developmental and epileptic encephalopathy, 12
c.1251-15C>G Single submitter developmental and epileptic encephalopathy, 12
c.1251-20C>T Single submitter developmental and epileptic encephalopathy, 12
c.1251-5C>T Single submitter developmental and epileptic encephalopathy, 12
c.1335+11C>G Single submitter developmental and epileptic encephalopathy, 12
c.1335+14A>G Single submitter developmental and epileptic encephalopathy, 12
c.1335+15T>C Single submitter developmental and epileptic encephalopathy, 12
c.1336-13dup Single submitter developmental and epileptic encephalopathy, 12
c.1336-15T>A Single submitter developmental and epileptic encephalopathy, 12
c.1336-19T>A Single submitter developmental and epileptic encephalopathy, 12
c.1513+12G>T Single submitter developmental and epileptic encephalopathy, 12
c.1513+242C>T Single submitter
c.1513+7G>A Single submitter developmental and epileptic encephalopathy, 12
c.1514-14T>C Single submitter developmental and epileptic encephalopathy, 12
c.1514-17T>C Single submitter developmental and epileptic encephalopathy, 12
c.1582-10C>T Single submitter developmental and epileptic encephalopathy, 12
c.1582-11C>A Single submitter developmental and epileptic encephalopathy, 12
c.1582-16T>C Single submitter developmental and epileptic encephalopathy, 12
c.1582-20T>C Single submitter developmental and epileptic encephalopathy, 12
c.1582-20T>G Single submitter developmental and epileptic encephalopathy, 12
c.1582-241G>A Single submitter
c.1582-6T>G Single submitter developmental and epileptic encephalopathy, 12
c.1582-8A>G Single submitter developmental and epileptic encephalopathy, 12
c.1678+106C>A Single submitter
c.1678+14G>A Single submitter developmental and epileptic encephalopathy, 12
c.1678+7T>C Single submitter developmental and epileptic encephalopathy, 12
c.1679-20T>G Single submitter developmental and epileptic encephalopathy, 12
c.1679-34T>C Single submitter
c.1763+16C>T Single submitter developmental and epileptic encephalopathy, 12
c.1763+55A>G Single submitter
c.1763+9G>T Single submitter developmental and epileptic encephalopathy, 12
c.1764-12A>G Single submitter developmental and epileptic encephalopathy, 12
c.1764-7G>T Single submitter developmental and epileptic encephalopathy, 12
c.1764-9A>G Single submitter developmental and epileptic encephalopathy, 12
c.177+10G>A Single submitter developmental and epileptic encephalopathy, 12
c.177+13G>A Single submitter developmental and epileptic encephalopathy, 12
c.177+16T>C Single submitter developmental and epileptic encephalopathy, 12
c.177+8_177+13del Single submitter developmental and epileptic encephalopathy, 12
c.177+8A>G Single submitter developmental and epileptic encephalopathy, 12
c.178-16C>T Single submitter developmental and epileptic encephalopathy, 12
c.1888+10T>C Single submitter developmental and epileptic encephalopathy, 12
c.1888+13T>G Single submitter developmental and epileptic encephalopathy, 12
c.1888+17T>A Single submitter developmental and epileptic encephalopathy, 12
c.1888+9A>C Single submitter developmental and epileptic encephalopathy, 12
c.1888+9A>G Single submitter developmental and epileptic encephalopathy, 12
c.1889-16T>C Single submitter developmental and epileptic encephalopathy, 12
c.1889-4T>G Single submitter developmental and epileptic encephalopathy, 12
c.1889-6A>G Single submitter developmental and epileptic encephalopathy, 12
c.2043+10C>A Single submitter developmental and epileptic encephalopathy, 12
c.2043+12C>A Single submitter developmental and epileptic encephalopathy, 12
c.2043+14A>G Single submitter developmental and epileptic encephalopathy, 12
c.2043+20A>C Single submitter developmental and epileptic encephalopathy, 12
c.2043+219G>A Single submitter
c.2044-15T>A Single submitter developmental and epileptic encephalopathy, 12
c.2044-281G>A Single submitter
c.2044-7T>C Single submitter developmental and epileptic encephalopathy, 12
c.2044-9A>C Single submitter developmental and epileptic encephalopathy, 12
c.2208+31A>C Single submitter
c.2209-152C>T Single submitter
c.2209-19T>C Single submitter developmental and epileptic encephalopathy, 12
c.2209-9C>A Single submitter developmental and epileptic encephalopathy, 12
c.2308+10G>C Single submitter developmental and epileptic encephalopathy, 12
c.2308+11dup Single submitter developmental and epileptic encephalopathy, 12
c.2308+11T>C Single submitter developmental and epileptic encephalopathy, 12
c.2308+178C>T Single submitter
c.2308+43G>A Single submitter
c.2309-10C>T Single submitter developmental and epileptic encephalopathy, 12
c.2309-18A>T Single submitter developmental and epileptic encephalopathy, 12
c.2309-30G>A Single submitter
c.2309-5T>C Single submitter developmental and epileptic encephalopathy, 12
c.2413+20T>C Single submitter developmental and epileptic encephalopathy, 12
c.2413+7A>G Single submitter developmental and epileptic encephalopathy, 12
c.2413+8A>G Single submitter developmental and epileptic encephalopathy, 12
c.2414-16T>C Single submitter developmental and epileptic encephalopathy, 12
c.2414-17A>C Single submitter developmental and epileptic encephalopathy, 12
c.2414-6A>G Single submitter developmental and epileptic encephalopathy, 12
c.246+158C>T Single submitter
c.246+18del Single submitter developmental and epileptic encephalopathy, 12
c.246+19T>G Single submitter developmental and epileptic encephalopathy, 12
c.246+26A>G Single submitter
c.246+61913G>C Single submitter
c.246+62046A>G Single submitter
c.246+9T>C Single submitter developmental and epileptic encephalopathy, 12
c.247-13A>G Single submitter developmental and epileptic encephalopathy, 12
c.2523+11G>A Single submitter developmental and epileptic encephalopathy, 12
c.2523+17A>G Single submitter developmental and epileptic encephalopathy, 12
c.2523+306C>T Single submitter
c.2524-164C>T Single submitter
c.2524-16A>T Single submitter developmental and epileptic encephalopathy, 12
c.2524-17G>C Single submitter developmental and epileptic encephalopathy, 12
c.2524-329A>C Single submitter
c.2656+12G>A Single submitter developmental and epileptic encephalopathy, 12
c.2656+19G>T Single submitter developmental and epileptic encephalopathy, 12
c.2656+20C>G Single submitter developmental and epileptic encephalopathy, 12
c.2656+7C>T Single submitter developmental and epileptic encephalopathy, 12
c.2657-10T>A Single submitter developmental and epileptic encephalopathy, 12
c.2657-10T>C Single submitter developmental and epileptic encephalopathy, 12
c.2657-15T>C Single submitter developmental and epileptic encephalopathy, 12
c.2657-18T>G Single submitter developmental and epileptic encephalopathy, 12
c.2657-19_2657-15del Single submitter developmental and epileptic encephalopathy, 12
c.2657-92T>C Single submitter
c.2710+17C>T Single submitter developmental and epileptic encephalopathy, 12
c.2710+8C>G Single submitter developmental and epileptic encephalopathy, 12
c.2711-11A>C Single submitter developmental and epileptic encephalopathy, 12
c.2711-13T>C Single submitter developmental and epileptic encephalopathy, 12
c.2711-154C>G Single submitter
c.2711-15A>G Single submitter developmental and epileptic encephalopathy, 12
c.2711-16T>C Single submitter developmental and epileptic encephalopathy, 12
c.2711-17A>C Single submitter developmental and epileptic encephalopathy, 12
c.2711-20T>C Single submitter developmental and epileptic encephalopathy, 12
c.2711-9T>C Single submitter developmental and epileptic encephalopathy, 12
c.2930+14A>G Single submitter developmental and epileptic encephalopathy, 12
c.2930+17T>C Single submitter developmental and epileptic encephalopathy, 12
c.2930+17T>G Single submitter developmental and epileptic encephalopathy, 12
c.2930+8C>T Single submitter developmental and epileptic encephalopathy, 12
c.2931-10_2931-9del Single submitter developmental and epileptic encephalopathy, 12
c.2931-177T>C Single submitter
c.2931-8C>G Single submitter developmental and epileptic encephalopathy, 12
c.3111+17T>A Single submitter developmental and epileptic encephalopathy, 12
c.3111+7C>T Single submitter developmental and epileptic encephalopathy, 12
c.3111+96G>T Single submitter
c.3112-10_3112-8del Single submitter developmental and epileptic encephalopathy, 12
c.3112-15A>G Single submitter developmental and epileptic encephalopathy, 12
c.3112-6T>C Single submitter developmental and epileptic encephalopathy, 12
c.3112-7T>C Single submitter developmental and epileptic encephalopathy, 12
c.3188+14C>A Single submitter developmental and epileptic encephalopathy, 12
c.3188+16C>T Single submitter developmental and epileptic encephalopathy, 12
c.3188+17A>G Single submitter developmental and epileptic encephalopathy, 12
c.3188+20A>G Single submitter developmental and epileptic encephalopathy, 12
c.3189-18C>T Single submitter developmental and epileptic encephalopathy, 12
c.3189-8G>A Single submitter developmental and epileptic encephalopathy, 12
c.3278+10_3278+11del Single submitter developmental and epileptic encephalopathy, 12
c.3278+16C>A Single submitter developmental and epileptic encephalopathy, 12
c.3279-234C>T Single submitter
c.3279-5T>C Single submitter developmental and epileptic encephalopathy, 12
c.3279-9del Single submitter developmental and epileptic encephalopathy, 12
c.3336+10C>T Single submitter developmental and epileptic encephalopathy, 12
c.3336+17C>T Single submitter developmental and epileptic encephalopathy, 12
c.3336+18G>A Single submitter developmental and epileptic encephalopathy, 12
c.3336+18G>T Single submitter developmental and epileptic encephalopathy, 12
c.3336+95C>T Single submitter
c.3337-15G>A Single submitter developmental and epileptic encephalopathy, 12
c.3337-18C>G Single submitter developmental and epileptic encephalopathy, 12
c.3337-5T>C Single submitter developmental and epileptic encephalopathy, 12
c.3337-69G>A Single submitter developmental and epileptic encephalopathy, 1
c.3337-6T>G Single submitter developmental and epileptic encephalopathy, 12
c.3423+11907G>A Single submitter
c.3423+12T>G Single submitter developmental and epileptic encephalopathy, 12
c.3423+18A>C Single submitter developmental and epileptic encephalopathy, 12
c.3423+18A>T Single submitter developmental and epileptic encephalopathy, 12
c.3423+7G>A Single submitter developmental and epileptic encephalopathy, 12
c.3424-11A>G Single submitter developmental and epileptic encephalopathy, 12
c.3424-15C>T Single submitter developmental and epileptic encephalopathy, 12
c.3424-17C>T Single submitter developmental and epileptic encephalopathy, 12
c.3424-18C>T Single submitter developmental and epileptic encephalopathy, 12
c.3424-19C>T Single submitter developmental and epileptic encephalopathy, 12
c.3424-20C>T Single submitter developmental and epileptic encephalopathy, 12
c.3424-263_3424-262insTGTGTGTGCG Single submitter
c.3424-263_3424-262insTGTGTGTGTGTGTGCG Single submitter
c.3424-293GT[20] Single submitter
c.3424-9G>A Single submitter developmental and epileptic encephalopathy, 12
c.384+17T>C Single submitter developmental and epileptic encephalopathy, 12
c.384+231C>T Single submitter
c.385-15A>C Single submitter developmental and epileptic encephalopathy, 12
c.385-264_385-263del Single submitter
c.385-9A>G Single submitter developmental and epileptic encephalopathy, 12
c.464+11C>G Single submitter developmental and epileptic encephalopathy, 12
c.464+14A>T Single submitter developmental and epileptic encephalopathy, 12
c.464+16T>C Single submitter developmental and epileptic encephalopathy, 12
c.464+18T>A Single submitter developmental and epileptic encephalopathy, 12
c.464+20T>C Single submitter developmental and epileptic encephalopathy, 12
c.464+256C>A Single submitter
c.464+7C>G Single submitter developmental and epileptic encephalopathy, 12
c.465-13G>C Single submitter developmental and epileptic encephalopathy, 12
c.465-14T>C Single submitter developmental and epileptic encephalopathy, 12
c.518+14G>A Single submitter developmental and epileptic encephalopathy, 12
c.518+16A>G Single submitter developmental and epileptic encephalopathy, 12
c.519-10C>T Single submitter developmental and epileptic encephalopathy, 12
c.519-13G>A Single submitter developmental and epileptic encephalopathy, 12
c.519-14T>C Single submitter developmental and epileptic encephalopathy, 12
c.519-18G>A Single submitter developmental and epileptic encephalopathy, 12
c.519-18G>C Single submitter developmental and epileptic encephalopathy, 12
c.519-19T>C Single submitter developmental and epileptic encephalopathy, 12
c.519-20T>C Single submitter developmental and epileptic encephalopathy, 12
c.519-7_519-3del Single submitter developmental and epileptic encephalopathy, 12
c.594+2014T>C Single submitter
c.595-14_595-12del Single submitter developmental and epileptic encephalopathy, 12
c.595-16T>A Single submitter
c.595-17G>C Single submitter developmental and epileptic encephalopathy, 12
c.595-18C>T Single submitter developmental and epileptic encephalopathy, 12
c.595-333G>A Single submitter
c.595-49C>A Single submitter
c.595-4C>G Single submitter developmental and epileptic encephalopathy, 12
c.595-5C>T Single submitter developmental and epileptic encephalopathy, 12
c.695+10C>G Single submitter developmental and epileptic encephalopathy, 12
c.695+11A>G Single submitter developmental and epileptic encephalopathy, 12
c.695+20G>A Single submitter developmental and epileptic encephalopathy, 12
c.695+9A>G Single submitter developmental and epileptic encephalopathy, 12
c.696-8G>C Single submitter developmental and epileptic encephalopathy, 12
c.696-9del Single submitter developmental and epileptic encephalopathy, 12
c.862+12C>G Single submitter developmental and epileptic encephalopathy, 12
c.862+13_862+16del Single submitter developmental and epileptic encephalopathy, 12
c.862+16C>T Single submitter developmental and epileptic encephalopathy, 12
c.862+18C>T Single submitter developmental and epileptic encephalopathy, 12
c.862+19A>G Single submitter developmental and epileptic encephalopathy, 12
c.862+20C>T Single submitter developmental and epileptic encephalopathy, 12
c.862+265C>T Single submitter
c.862+7dup Single submitter developmental and epileptic encephalopathy, 12
c.863-124A>G Single submitter
c.863-15C>T Single submitter developmental and epileptic encephalopathy, 12
c.863-20T>C Single submitter developmental and epileptic encephalopathy, 12
c.863-57C>T Single submitter
c.863-62dup Single submitter
c.863-7C>G Single submitter developmental and epileptic encephalopathy, 12
c.99+12G>C Single submitter developmental and epileptic encephalopathy, 12
c.99+15G>A Single submitter developmental and epileptic encephalopathy, 12
c.99+19C>T Single submitter developmental and epileptic encephalopathy, 12
c.99+20G>A Single submitter developmental and epileptic encephalopathy, 12
c.*1538G>T Single submitter developmental and epileptic encephalopathy, 12
c.*1670C>T Single submitter
c.*1798T>G Single submitter

Uncertain significance 474

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

c.1581+4G>A Multiple submitters Inborn genetic diseases
c.3336+3A>G Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala1046Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1046Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala1116Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala1182Val Multiple submitters Inborn genetic diseases ⚠
p.Ala155Val Multiple submitters Inborn genetic diseases ⚠
p.Ala78Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala890Val Multiple submitters Inborn genetic diseases ⚠
p.Ala965Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala970Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala995Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1020Gln Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg1020Trp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg1032Gln Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg1112= Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg1132Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1132His Multiple submitters Inborn genetic diseases ⚠
p.Arg222Gln Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg257Trp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg297Cys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg297His Multiple submitters Inborn genetic diseases ⚠
p.Arg350His Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg358His Multiple submitters Inborn genetic diseases ⚠
p.Arg768Trp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg97Cys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg97His Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Asn217Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Asn281Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn562Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Asn724Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Asp513Asn Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Asp514Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp943Glu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu1175Asp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu1202Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu125del Multiple submitters Inborn genetic diseases
p.Glu302Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu577Lys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu751Lys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly25Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly305Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly433Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly478Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly478Val Multiple submitters Inborn genetic diseases ⚠
p.Gly863Ala Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.His116Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile1035Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1207Val Multiple submitters Inborn genetic diseases ⚠
p.Ile261Val Multiple submitters Inborn genetic diseases ⚠
p.Ile407Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Leu1038Phe Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Leu111Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu11Val Multiple submitters Inborn genetic diseases ⚠
p.Leu762Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys472Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys796Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Lys825Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Lys925Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys977Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Met1091Ile Multiple submitters Inborn genetic diseases ⚠
p.Met1091Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Met1098Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Met1169Val Multiple submitters Inborn genetic diseases ⚠
p.Met456Val Multiple submitters Inborn genetic diseases ⚠
p.Met525Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Met525Val Multiple submitters Inborn genetic diseases ⚠
p.Met592Leu Multiple submitters Inborn genetic diseases ⚠
p.Met639Val Multiple submitters Inborn genetic diseases ⚠
p.Met930Val Multiple submitters Inborn genetic diseases ⚠
p.Phe1212Cys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Phe1212Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Phe497Val Multiple submitters Inborn genetic diseases ⚠
p.Pro783Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro875Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro983Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser236Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser477Arg Multiple submitters ⚠
p.Ser487Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser501Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser67Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser853Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr1043Met Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr1197Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr39Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr509Met Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr802Ile Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr857Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr867Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr1025Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr773Cys Multiple submitters Inborn genetic diseases
p.Val292Ala Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val307Ile Multiple submitters Inborn genetic diseases ⚠
p.Val360Leu Multiple submitters Inborn genetic diseases
p.Val571Met Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val726Ile Multiple submitters Inborn genetic diseases ⚠
c.1010-3T>A Single submitter developmental and epileptic encephalopathy, 12
c.1167+5A>G Single submitter developmental and epileptic encephalopathy, 12
c.1167+6G>A Single submitter developmental and epileptic encephalopathy, 12
c.1582-3C>A Single submitter developmental and epileptic encephalopathy, 12
c.178-3C>T Single submitter developmental and epileptic encephalopathy, 12
c.2413+3A>C Single submitter developmental and epileptic encephalopathy, 12
c.2413+6C>A Single submitter developmental and epileptic encephalopathy, 12
c.247-3C>A Single submitter developmental and epileptic encephalopathy, 12
c.2523+3G>A Single submitter developmental and epileptic encephalopathy, 12
c.2656+5G>A Single submitter
c.2930+13A>G Single submitter developmental and epileptic encephalopathy, 12
c.2930+4A>G Single submitter developmental and epileptic encephalopathy, 12
c.2930+8C>A Single submitter
c.3111+6C>T Single submitter developmental and epileptic encephalopathy, 12
c.3188+5G>C Single submitter developmental and epileptic encephalopathy, 12
c.3278+13T>C Single submitter developmental and epileptic encephalopathy, 12
c.3337-3T>C Single submitter developmental and epileptic encephalopathy, 12
c.3423+11802G>T Single submitter
c.3423+6C>T Single submitter developmental and epileptic encephalopathy, 12
c.384+3A>G Single submitter developmental and epileptic encephalopathy, 12
c.695+6_695+7del Single submitter developmental and epileptic encephalopathy, 12
c.696-3T>C Single submitter developmental and epileptic encephalopathy, 12
c.-1G>C Single submitter developmental and epileptic encephalopathy, 12
c.-311T>G Single submitter developmental and epileptic encephalopathy, 12
c.*1081T>C Single submitter developmental and epileptic encephalopathy, 12
c.*1145A>C Single submitter developmental and epileptic encephalopathy, 12
c.*1173G>A Single submitter developmental and epileptic encephalopathy, 12
c.*1252T>A Single submitter developmental and epileptic encephalopathy, 12
c.*126A>G Single submitter developmental and epileptic encephalopathy, 12
c.*1342A>C Single submitter developmental and epileptic encephalopathy, 12
c.*1409A>G Single submitter developmental and epileptic encephalopathy, 12
c.*1473T>A Single submitter developmental and epileptic encephalopathy, 12
c.*158T>A Single submitter developmental and epileptic encephalopathy, 12
c.*1644T>C Single submitter developmental and epileptic encephalopathy, 12
c.*1682G>A Single submitter developmental and epileptic encephalopathy, 12
c.*1707A>C Single submitter developmental and epileptic encephalopathy, 12
c.*1724G>A Single submitter developmental and epileptic encephalopathy, 12
c.*1795A>C Single submitter developmental and epileptic encephalopathy, 12
c.*1848A>T Single submitter developmental and epileptic encephalopathy, 12
c.*1871G>A Single submitter developmental and epileptic encephalopathy, 12
c.*1930G>T Single submitter developmental and epileptic encephalopathy, 12
c.*1965A>G Single submitter developmental and epileptic encephalopathy, 12
c.*1979T>G Single submitter developmental and epileptic encephalopathy, 12
c.*2019G>A Single submitter developmental and epileptic encephalopathy, 12
c.*2051C>T Single submitter developmental and epileptic encephalopathy, 12
c.*2205C>A Single submitter developmental and epileptic encephalopathy, 12
c.*2485G>C Single submitter developmental and epileptic encephalopathy, 12
c.*2565G>A Single submitter developmental and epileptic encephalopathy, 12
c.*2717G>A Single submitter developmental and epileptic encephalopathy, 12
c.*2789G>A Single submitter developmental and epileptic encephalopathy, 12
c.*2847T>A Single submitter developmental and epileptic encephalopathy, 12
c.*295T>C Single submitter developmental and epileptic encephalopathy, 12
c.*3046A>C Single submitter developmental and epileptic encephalopathy, 12
c.*372A>G Single submitter developmental and epileptic encephalopathy, 12
c.*381G>A Single submitter developmental and epileptic encephalopathy, 12
c.*423G>A Single submitter developmental and epileptic encephalopathy, 12
c.*57T>C Single submitter developmental and epileptic encephalopathy, 12
c.*589G>A Single submitter developmental and epileptic encephalopathy, 12
c.*632A>G Single submitter developmental and epileptic encephalopathy, 12
c.*743T>C Single submitter developmental and epileptic encephalopathy, 12
c.*785A>T Single submitter developmental and epileptic encephalopathy, 12
c.*880G>T Single submitter developmental and epileptic encephalopathy, 12
c.*964G>T Single submitter developmental and epileptic encephalopathy, 12
c.*991A>C Single submitter developmental and epileptic encephalopathy, 12
p.Ala10Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala10Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala1116Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala1168Asp Single submitter Inborn genetic diseases ⚠
p.Ala1168Thr Single submitter Inborn genetic diseases ⚠
p.Ala127Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala138Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala143Thr Single submitter Inborn genetic diseases ⚠
p.Ala155= Single submitter developmental and epileptic encephalopathy, 12
p.Ala285Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala396Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala399Thr Single submitter ⚠
p.Ala425Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala435Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala504Val Single submitter Inborn genetic diseases ⚠
p.Ala617Ser Single submitter Inborn genetic diseases ⚠
p.Ala712Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala72Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala748Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala851Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala851Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala884Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala890Ser Single submitter ⚠
p.Arg101Cys Single submitter developmental and epileptic encephalopathy, 12
p.Arg1120Trp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg1132Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg1132Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg176His Single submitter ⚠
p.Arg222Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg286Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg297Leu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg368Trp Single submitter ⚠
p.Arg429Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg603Leu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg657Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg760Cys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg760His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg815Gln Single submitter Inborn genetic diseases ⚠
p.Arg823Lys Single submitter ⚠
p.Arg87His Single submitter developmental and epileptic encephalopathy, 12
p.Arg936Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn1018Asp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn113Tyr Single submitter Inborn genetic diseases ⚠
p.Asn1178Asp Single submitter Inborn genetic diseases ⚠
p.Asn1178Tyr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn1194Ser Single submitter ⚠
p.Asn218Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn332Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn488Ile Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn562Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp1010Ala Single submitter ⚠
p.Asp1189Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp1206Asn Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp149Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp200Asn Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp492Asn Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp513Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp515Asn Single submitter ⚠
p.Asp515Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp517Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp519del Single submitter Inborn genetic diseases
p.Asp519Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp605Tyr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp91Tyr Single submitter Inborn genetic diseases
p.Asp958Glu Single submitter ⚠
p.Asp984Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp998His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Cys775Tyr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln1003Glu Single submitter Inborn genetic diseases ⚠
p.Gln1134Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln1143Pro Single submitter
p.Gln123His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln204His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln204Leu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln268Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln272Arg Single submitter ⚠
p.Gln548Leu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln57His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln5Glu Single submitter Inborn genetic diseases ⚠
p.Gln5His Single submitter ⚠
p.Gln765Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln782His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu1048Ala Single submitter developmental and epileptic encephalopathy, 12
p.Glu1048Asp Single submitter Inborn genetic diseases ⚠
p.Glu1114Lys Single submitter ⚠
p.Glu1114Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu1115Lys Single submitter ⚠
p.Glu1122Lys Single submitter developmental and epileptic encephalopathy, 12
p.Glu1130Asp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu1138Lys Single submitter Inborn genetic diseases ⚠
p.Glu1145Asp Single submitter Inborn genetic diseases ⚠
p.Glu1149Asp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu1163Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu1201Lys Single submitter Inborn genetic diseases ⚠
p.Glu1202Lys Single submitter ⚠
p.Glu190Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu260Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu269Asp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu269Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu276Lys Single submitter Inborn genetic diseases ⚠
p.Glu310Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu439Asp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu442Lys Single submitter developmental and epileptic encephalopathy, 12
p.Glu553Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu585Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu588Asp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu641= Single submitter
p.Glu653Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu779Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu808Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu835Gly Single submitter Inborn genetic diseases ⚠
p.Glu836Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu836Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu837del Single submitter developmental and epileptic encephalopathy, 12
p.Glu854Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu895Lys Single submitter ⚠
p.Glu911Lys Single submitter
p.Glu929Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu99Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly1191Ala Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly1209Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly167Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly25Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly301Ala Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly503Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly531Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly644Arg Single submitter developmental and epileptic encephalopathy, 12
p.Gly647Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly672Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly7= Single submitter
p.Gly75Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly7Ala Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly7Val Single submitter Inborn genetic diseases ⚠
p.Gly845Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly96Arg Single submitter Inborn genetic diseases ⚠
p.His116Tyr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.His331Tyr Single submitter ⚠
p.His926Tyr Single submitter ⚠
p.His938Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.His948Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠