Sugi Variant

Sugi Variant/DEPDC5

DEPDC5 — 2612 ClinVar variants

All ClinVar germline DEPDC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1125 flagged for review →

230 Pathogenic · 17 Pathogenic/Likely pathogenic · 121 Likely pathogenic · 70 Conflicting · 127 Benign · 30 Benign/Likely benign · 827 Likely benign · 1190 Uncertain significance

Full DEPDC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1125

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 31

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

Predicted LoF vs a conflicting call 5

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

Predictors lean, ClinVar uncertain 728

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 728

Predictors split 360

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 360

All DEPDC5 variants

Pathogenic 230

  • c.1218-1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.3021+1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.4519+1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.562+1G>A Multiple submitters familial focal epilepsy with variable foci
  • p.Arg1087Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg116Ter Multiple submitters Seizure
  • p.Arg1268Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg1332Ter Multiple submitters Inborn genetic diseases
  • p.Arg1468Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg239Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg243Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg286Ter Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Arg328Ter Multiple submitters Inborn genetic diseases
  • p.Arg422Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg485Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg487Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg492Ter Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Arg555Ter Multiple submitters Inborn genetic diseases
  • p.Arg567Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg587Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg838Ter Multiple submitters Inborn genetic diseases
  • p.Arg843Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Arg874Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Asn1362fs Multiple submitters familial focal epilepsy with variable foci
  • p.Asn437fs Multiple submitters familial focal epilepsy with variable foci
  • p.Gln1146Ter Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Gln140Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Gln456Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Gln519Ter Multiple submitters Inborn genetic diseases
  • p.His490fs Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Ile67fs Multiple submitters familial focal epilepsy with variable foci
  • p.Pro1309fs Multiple submitters familial focal epilepsy with variable foci
  • p.Ser655fs Multiple submitters familial focal epilepsy with variable foci
  • p.Trp1405Ter Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Tyr775Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Tyr7Ter Multiple submitters Inborn genetic diseases
  • c.1143+2T>C Single submitter epilepsy, familial focal, with variable foci 1
  • c.1218-1G>C Single submitter familial focal epilepsy with variable foci
  • c.147-2A>C Single submitter epilepsy, familial focal, with variable foci 1
  • c.193+1G>A Single submitter familial focal epilepsy with variable foci
  • c.2355-2A>G Single submitter epilepsy, familial focal, with variable foci 1
  • c.279+1G>A Single submitter familial focal epilepsy with variable foci
  • c.280-2A>G Single submitter familial focal epilepsy with variable foci
  • c.3021+1G>T Single submitter familial focal epilepsy with variable foci
  • c.3021+2T>G Single submitter familial focal epilepsy with variable foci
  • c.3486-2A>T Single submitter epilepsy, familial focal, with variable foci 1
  • c.3564-1G>C Single submitter epilepsy, familial focal, with variable foci 1
  • c.4204-2A>G Single submitter epilepsy, familial focal, with variable foci 1
  • c.4204del Single submitter epilepsy, familial focal, with variable foci 1
  • c.484-1G>A Single submitter epilepsy, familial focal, with variable foci 1
  • c.563-2A>C Single submitter Seizure
  • c.624+1G>A Single submitter familial focal epilepsy with variable foci
  • c.947-1G>C Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ala1059fs Single submitter familial focal epilepsy with variable foci
  • p.Ala1183fs Single submitter familial focal epilepsy with variable foci
  • p.Ala1281fs Single submitter familial focal epilepsy with variable foci
  • p.Ala302fs Single submitter Inborn genetic diseases
  • p.Ala461_Tyr462insTer Single submitter familial focal epilepsy with variable foci
  • p.Ala464fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Arg165fs Single submitter familial focal epilepsy with variable foci
  • p.Arg263fs Single submitter familial focal epilepsy with variable foci
  • p.Arg615fs Single submitter familial focal epilepsy with variable foci
  • p.Arg78_Leu79insTer Single submitter Seizure
  • p.Arg78fs Single submitter familial focal epilepsy with variable foci
  • p.Arg997fs Single submitter familial focal epilepsy with variable foci
  • p.Arg998fs Single submitter familial focal epilepsy with variable foci
  • p.Asn211fs Single submitter familial focal epilepsy with variable foci
  • p.Asn404fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Asn599fs Single submitter
  • p.Asp1084fs Single submitter familial focal epilepsy with variable foci
  • p.Asp1089fs Single submitter familial focal epilepsy with variable foci
  • p.Asp113fs Single submitter familial focal epilepsy with variable foci
  • p.Asp1570fs Single submitter
  • p.Asp365fs Single submitter epilepsy
  • p.Asp650fs Single submitter familial focal epilepsy with variable foci
  • p.Asp70fs Single submitter familial focal epilepsy with variable foci
  • p.Asp769fs Single submitter familial focal epilepsy with variable foci
  • p.Asp850fs Single submitter familial focal epilepsy with variable foci
  • p.Cys1053Ter Single submitter familial focal epilepsy with variable foci
  • p.Cys1204Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Cys368Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Cys477Ter Single submitter familial focal epilepsy with variable foci
  • p.Cys498fs Single submitter familial focal epilepsy with variable foci
  • p.Cys952Ter Single submitter familial focal epilepsy with variable foci
  • p.Cys966Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln1069Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln107Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln1151Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln1290Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln1403Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln1501fs Single submitter familial focal epilepsy with variable foci
  • p.Gln1524Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln176Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln295Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln303fs Single submitter familial focal epilepsy with variable foci
  • p.Gln331Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln413Ter Single submitter epilepsy
  • p.Gln476Ter Single submitter Inborn genetic diseases
  • p.Gln631Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln638Ter Single submitter
  • p.Gln63Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln675Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln71Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln764fs Single submitter familial focal epilepsy with variable foci
  • p.Gln805Ter Single submitter Inborn genetic diseases
  • p.Gln820Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln83fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gln83Ter Single submitter familial focal epilepsy with variable foci
  • p.Gln923fs Single submitter familial focal epilepsy with variable foci
  • p.Glu1072fs Single submitter familial focal epilepsy with variable foci
  • p.Glu1150fs Single submitter familial focal epilepsy with variable foci
  • p.Glu1219fs Single submitter familial focal epilepsy with variable foci
  • p.Glu1237fs Single submitter familial sleep-related hypermotor epilepsy
  • p.Glu1246fs Single submitter familial focal epilepsy with variable foci
  • p.Glu1301Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu1368Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu1400fs Single submitter
  • p.Glu1474Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu215Ter Single submitter genetic developmental and epileptic encephalopathy
  • p.Glu233Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu262Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu288fs Single submitter familial focal epilepsy with variable foci
  • p.Glu288Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu371Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu563Ter Single submitter familial focal epilepsy with variable foci
  • p.Glu60fs Single submitter familial focal epilepsy with variable foci
  • p.Glu848Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Glu915fs Single submitter
  • p.Glu963fs Single submitter familial focal epilepsy with variable foci
  • p.Gly1064fs Single submitter
  • p.Gly1545_Tyr1546insTer Single submitter familial focal epilepsy with variable foci
  • p.Gly810fs Single submitter familial focal epilepsy with variable foci
  • p.His1217fs Single submitter
  • p.His1242fs Single submitter familial focal epilepsy with variable foci
  • p.His375fs Single submitter familial focal epilepsy with variable foci
  • p.His965fs Single submitter familial focal epilepsy with variable foci
  • p.Ile109fs Single submitter familial focal epilepsy with variable foci
  • p.Ile1228fs Single submitter Inborn genetic diseases
  • p.Ile1240fs Single submitter familial focal epilepsy with variable foci
  • p.Ile175fs Single submitter familial focal epilepsy with variable foci
  • p.Ile925fs Single submitter
  • p.Ile936fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Leu102fs Single submitter familial focal epilepsy with variable foci
  • p.Leu1193fs Single submitter familial focal epilepsy with variable foci
  • p.Leu1344Ter Single submitter familial focal epilepsy with variable foci
  • p.Leu1415fs Single submitter familial focal epilepsy with variable foci
  • p.Leu1435fs Single submitter familial focal epilepsy with variable foci
  • p.Leu1511fs Single submitter familial focal epilepsy with variable foci
  • p.Leu220fs Single submitter
  • p.Leu379fs Single submitter
  • p.Leu53fs Single submitter familial focal epilepsy with variable foci
  • p.Leu830fs Single submitter familial focal epilepsy with variable foci
  • p.Leu865fs Single submitter familial focal epilepsy with variable foci
  • p.Lys64fs Single submitter
  • p.Lys878fs Single submitter Seizure
  • p.Phe1093fs Single submitter familial focal epilepsy with variable foci
  • p.Phe1330fs Single submitter familial focal epilepsy with variable foci
  • p.Phe164del Single submitter epilepsy, familial focal, with variable foci 1
  • p.Phe278fs Single submitter familial focal epilepsy with variable foci
  • p.Phe380fs Single submitter familial focal epilepsy with variable foci
  • p.Phe467fs Single submitter familial focal epilepsy with variable foci
  • p.Phe601fs Single submitter familial focal epilepsy with variable foci
  • p.Phe901fs Single submitter familial focal epilepsy with variable foci
  • p.Pro1032fs Single submitter familial focal epilepsy with variable foci
  • p.Pro378fs Single submitter familial focal epilepsy with variable foci
  • p.Ser1002Ter Single submitter familial focal epilepsy with variable foci
  • p.Ser1039Ter Single submitter Seizure
  • p.Ser1085fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ser120fs Single submitter familial focal epilepsy with variable foci
  • p.Ser1325fs Single submitter
  • p.Ser1453fs Single submitter familial focal epilepsy with variable foci
  • p.Ser241Ter Single submitter familial focal epilepsy with variable foci
  • p.Ser313fs Single submitter familial focal epilepsy with variable foci
  • p.Ser313Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ser386fs Single submitter familial focal epilepsy with variable foci
  • p.Ser412fs Single submitter familial focal epilepsy with variable foci
  • p.Ser497fs Single submitter familial focal epilepsy with variable foci
  • p.Ser570fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ser579fs Single submitter familial focal epilepsy with variable foci
  • p.Ser612fs Single submitter familial focal epilepsy with variable foci
  • p.Ser699fs Single submitter familial focal epilepsy with variable foci
  • p.Ser897Ter Single submitter familial focal epilepsy with variable foci
  • p.Thr592fs Single submitter familial focal epilepsy with variable foci
  • p.Thr72fs Single submitter familial focal epilepsy with variable foci
  • p.Trp115Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp1213_Leu1214insTer Single submitter familial focal epilepsy with variable foci
  • p.Trp1213Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp1315Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp1369Ter Single submitter
  • p.Trp1466Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp1558fs Single submitter familial focal epilepsy with variable foci
  • p.Trp182Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Trp267Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp402Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp942Ter Single submitter familial focal epilepsy with variable foci
  • p.Trp980Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr108Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr1258Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr1374Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr1429Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr1431fs Single submitter familial focal epilepsy with variable foci
  • p.Tyr1515fs Single submitter familial focal epilepsy with variable foci
  • p.Tyr1550Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr191fs Single submitter familial focal epilepsy with variable foci
  • p.Tyr226fs Single submitter
  • p.Tyr226Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr255Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr306Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Tyr397Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr408Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr759fs Single submitter familial focal epilepsy with variable foci
  • p.Tyr811Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr82Ter Single submitter familial focal epilepsy with variable foci
  • p.Tyr969Ter Single submitter familial focal epilepsy with variable foci
  • p.Val1483fs Single submitter familial focal epilepsy with variable foci
  • p.Val1505fs Single submitter familial focal epilepsy with variable foci
  • p.Val1544fs Single submitter familial focal epilepsy with variable foci
  • p.Val334fs Single submitter
  • p.Val466fs Single submitter familial focal epilepsy with variable foci
  • p.Val733fs Single submitter familial focal epilepsy with variable foci
  • p.Val953fs Single submitter familial focal epilepsy with variable foci
  • p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer Single submitter familial focal epilepsy with variable foci
  • c.279+1G>C No assertion criteria epilepsy, familial focal, with variable foci 1
  • c.-57G>C No assertion criteria self-limited epilepsy with centrotemporal spikes
  • p.Gln244Ter No assertion criteria epilepsy, familial focal, with variable foci 1
  • p.Ile1148fs No assertion criteria self-limited epilepsy with centrotemporal spikes
  • p.Leu374fs No assertion criteria epilepsy, familial focal, with variable foci 1
  • p.Ser831delinsArgAsp No assertion criteria self-limited epilepsy with centrotemporal spikes
  • p.Trp1558Ter No assertion criteria epilepsy, familial focal, with variable foci 1
  • p.Val151fs No assertion criteria epilepsy, familial focal, with variable foci 1

Pathogenic/Likely pathogenic 17

  • c.1287+1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.193+1G>T Multiple submitters familial focal epilepsy with variable foci
  • c.280-1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.413+1G>A Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.562+1G>T Multiple submitters familial focal epilepsy with variable foci
  • c.625-2A>G Multiple submitters familial focal epilepsy with variable foci
  • c.695-1G>T Multiple submitters familial focal epilepsy with variable foci
  • c.767+1G>A Multiple submitters familial focal epilepsy with variable foci
  • p.Gln1501Ter Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Gln289Ter Multiple submitters familial focal epilepsy with variable foci
  • p.Gln816Ter Multiple submitters SUDDEN INFANT DEATH SYNDROME
  • p.Gly1564_Asp1565insTer Multiple submitters familial focal epilepsy with variable foci
  • p.His653fs Multiple submitters familial focal epilepsy with variable foci
  • p.Leu1356fs Multiple submitters epilepsy
  • p.Lys229fs Multiple submitters epilepsy
  • p.Val340fs Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Val73fs Multiple submitters familial focal epilepsy with variable foci

Likely pathogenic 121

  • c.1324+1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.1324+1G>T Multiple submitters familial focal epilepsy with variable foci
  • c.2105-1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.2634-2A>G Multiple submitters familial focal epilepsy with variable foci
  • c.363+1G>A Multiple submitters familial focal epilepsy with variable foci
  • c.59-2A>G Multiple submitters familial focal epilepsy with variable foci
  • c.947-1G>A Multiple submitters familial focal epilepsy with variable foci
  • p.Phe1384fs Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.1081+2T>G Single submitter familial focal epilepsy with variable foci
  • c.1082-1G>A Single submitter familial focal epilepsy with variable foci
  • c.1143+1G>A Single submitter familial focal epilepsy with variable foci
  • c.1217+1G>A Single submitter Seizure
  • c.1217+1G>T Single submitter familial focal epilepsy with variable foci
  • c.1287+1G>T Single submitter familial focal epilepsy with variable foci
  • c.1324+3_1324+6del Single submitter
  • c.1325-1G>A Single submitter familial focal epilepsy with variable foci
  • c.1325-1G>C Single submitter familial focal epilepsy with variable foci
  • c.1325-2_1360del Single submitter familial focal epilepsy with variable foci
  • c.1325-2A>G Single submitter familial focal epilepsy with variable foci
  • c.1325-6_1325-1del Single submitter epilepsy, familial focal, with variable foci 1
  • c.1445+1G>A Single submitter epilepsy, familial focal, with variable foci 1
  • c.1446-1G>T Single submitter familial focal epilepsy with variable foci
  • c.147-1G>C Single submitter familial focal epilepsy with variable foci
  • c.147-2A>G Single submitter epilepsy, familial focal, with variable foci 1
  • c.1871-15_1901del Single submitter familial focal epilepsy with variable foci
  • c.194-1G>A Single submitter Inborn genetic diseases
  • c.194-1G>C Single submitter familial focal epilepsy with variable foci
  • c.1981_2104+678del Single submitter familial focal epilepsy with variable foci
  • c.2107_2515+2dup Single submitter Seizure
  • c.2233_2355-686del Single submitter familial focal epilepsy with variable foci
  • c.2515+2T>G Single submitter familial focal epilepsy with variable foci
  • c.2633+2T>A Single submitter
  • c.279+1G>T Single submitter focal epilepsy
  • c.280-4_282del Single submitter familial focal epilepsy with variable foci
  • c.2801+2T>G Single submitter familial focal epilepsy with variable foci
  • c.3021_3021+1delinsCT Single submitter familial focal epilepsy with variable foci
  • c.3485+1G>A Single submitter familial focal epilepsy with variable foci
  • c.3485+1G>T Single submitter familial focal epilepsy with variable foci
  • c.3486-1G>C Single submitter familial focal epilepsy with variable foci
  • c.3486-1G>T Single submitter familial focal epilepsy with variable foci
  • c.3486-3_3486-1delinsA Single submitter epilepsy, familial focal, with variable foci 1
  • c.363+1G>C Single submitter familial focal epilepsy with variable foci
  • c.363+2T>G Single submitter familial focal epilepsy with variable foci
  • c.364-1G>A Single submitter familial focal epilepsy with variable foci
  • c.364-1G>C Single submitter DEPDC5-related disorder
  • c.3696+1G>A Single submitter familial focal epilepsy with variable foci
  • c.3805+1G>A Single submitter focal epilepsy
  • c.3805+1G>T Single submitter Inborn genetic diseases
  • c.4033+2T>C Single submitter familial focal epilepsy with variable foci
  • c.414-2A>G Single submitter familial focal epilepsy with variable foci
  • c.4203+1G>C Single submitter familial focal epilepsy with variable foci
  • c.4204-1G>A Single submitter familial focal epilepsy with variable foci
  • c.4204-1G>C Single submitter epilepsy, familial focal, with variable foci 1
  • c.4436+1G>A Single submitter familial focal epilepsy with variable foci
  • c.4437-2A>C Single submitter epilepsy, familial focal, with variable foci 1
  • c.483+1G>A Single submitter familial focal epilepsy with variable foci
  • c.483+2T>C Single submitter familial focal epilepsy with variable foci
  • c.484-2A>T Single submitter familial focal epilepsy with variable foci
  • c.58+1G>A Single submitter familial focal epilepsy with variable foci
  • c.58+2T>C Single submitter familial focal epilepsy with variable foci
  • c.58+5G>C Single submitter
  • c.59-1G>C Single submitter familial focal epilepsy with variable foci
  • c.694+1G>A Single submitter familial focal epilepsy with variable foci
  • c.767+2T>C Single submitter epilepsy, familial focal, with variable foci 1
  • c.768-2A>G Single submitter familial focal epilepsy with variable foci
  • c.871+1G>T Single submitter familial focal epilepsy with variable foci
  • c.946+1G>A Single submitter
  • p.Ala135fs Single submitter
  • p.Ala1489fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ala426fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Arg1087fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Arg1363fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Arg614Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Arg616Cys Single submitter ⚠
  • p.Asn315fs Single submitter
  • p.Asn919_Tyr920insTer Single submitter Autosomal dominant and autosomal recessive DEPDC5-related disorders
  • p.Asp1565fs Single submitter
  • p.Asp522delinsGluGluProGlyPheTer Single submitter
  • p.Asp898fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gln1132Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gln130Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gln1339Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gln1524fs Single submitter
  • p.Gln280Ter Single submitter
  • p.Gln566fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gln594Ter Single submitter
  • p.Gln805fs Single submitter
  • p.Gln809Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Glu1196Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Glu1246Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Glu1463Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Glu265fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Glu900fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gly1014fs Single submitter developmental and epileptic encephalopathy 111
  • p.Gly142fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Gly188Trp Single submitter
  • p.Gly839Val Single submitter epilepsy, familial focal, with variable foci 1 ⚠
  • p.His576fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Leu1456_Phe1457insTer Single submitter
  • p.Leu558Pro Single submitter familial focal epilepsy with variable foci ⚠
  • p.Lys1088= Single submitter epilepsy, familial focal, with variable foci 1
  • p.Lys276fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Lys528fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Met1017fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Phe234fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Phe30fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Pro1495fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ser1155del Single submitter epilepsy, familial focal, with variable foci 1
  • p.Ser333Ter Single submitter
  • p.Thr1189fs Single submitter
  • p.Thr409fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Trp145Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Tyr1515Ter Single submitter Seizure
  • p.Tyr251Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Tyr48Ter Single submitter epilepsy, familial focal, with variable foci 1
  • p.Val1419fs Single submitter epilepsy, familial focal, with variable foci 1
  • p.Val146fs Single submitter epilepsy, familial focal, with variable foci 1
  • c.1446-2_1448del No assertion criteria epilepsy, familial focal, with variable foci 1
  • c.2354+2T>A No assertion criteria epilepsy, familial focal, with variable foci 1
  • c.3264+1G>C No assertion criteria Seizure
  • c.3330+1G>A No assertion criteria epilepsy, familial focal, with variable foci 1

Conflicting classifications of pathogenicity 70

Benign 127

Benign/Likely benign 30

  • c.1218-5del Multiple submitters familial focal epilepsy with variable foci
  • c.146+5G>A Multiple submitters Inborn genetic diseases
  • c.2354+48G>A Multiple submitters
  • c.3265-3C>T Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.3331-10del Multiple submitters familial focal epilepsy with variable foci
  • c.363+6_363+7del Multiple submitters familial focal epilepsy with variable foci
  • c.3696+18G>A Multiple submitters familial focal epilepsy with variable foci
  • c.4519+13G>A Multiple submitters familial focal epilepsy with variable foci
  • p.Ala1270= Multiple submitters Inborn genetic diseases
  • p.Ala452Val Multiple submitters Inborn genetic diseases
  • p.Arg674Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1114= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp463= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp762= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp84= Multiple submitters familial focal epilepsy with variable foci
  • p.Cys952= Multiple submitters Inborn genetic diseases
  • p.Gly444Arg Multiple submitters Inborn genetic diseases
  • p.Gly668= Multiple submitters Inborn genetic diseases
  • p.Ile1228Thr Multiple submitters familial focal epilepsy with variable foci
  • p.Leu691Pro Multiple submitters Inborn genetic diseases
  • p.Leu713= Multiple submitters familial focal epilepsy with variable foci
  • p.Lys1052Arg Multiple submitters Inborn genetic diseases
  • p.Pro1434= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1105= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser692Phe Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1189= Multiple submitters familial focal epilepsy with variable foci
  • p.Thr441Ala Multiple submitters Inborn genetic diseases
  • p.Val1215Met Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Val24Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Val272Ile Multiple submitters familial focal epilepsy with variable foci

Likely benign 827

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

  • c.1143+92C>T Multiple submitters
  • c.1218-13G>C Multiple submitters familial focal epilepsy with variable foci
  • c.1871-223A>C Multiple submitters
  • c.194-5T>C Multiple submitters familial focal epilepsy with variable foci
  • c.2007-203C>G Multiple submitters
  • c.2105-18G>A Multiple submitters familial focal epilepsy with variable foci
  • c.2171-10C>T Multiple submitters familial focal epilepsy with variable foci
  • c.2354+28C>T Multiple submitters
  • c.2633+7A>G Multiple submitters familial focal epilepsy with variable foci
  • c.3022-19C>G Multiple submitters familial focal epilepsy with variable foci
  • c.3264+13G>A Multiple submitters familial focal epilepsy with variable foci
  • c.363+106A>G Multiple submitters
  • c.363+92G>T Multiple submitters
  • c.3696+10C>A Multiple submitters familial focal epilepsy with variable foci
  • c.3697-191A>G Multiple submitters
  • c.3697-228G>A Multiple submitters
  • c.3805+20C>T Multiple submitters familial focal epilepsy with variable foci
  • c.3806-18C>A Multiple submitters familial focal epilepsy with variable foci
  • c.413+21G>T Multiple submitters
  • c.4204-6C>T Multiple submitters familial focal epilepsy with variable foci
  • c.4519+20G>A Multiple submitters familial focal epilepsy with variable foci
  • c.483+8T>G Multiple submitters familial focal epilepsy with variable foci
  • c.58+177A>G Multiple submitters
  • c.59-160T>C Multiple submitters
  • c.59-57A>G Multiple submitters
  • c.694+23C>T Multiple submitters
  • c.695-16G>A Multiple submitters familial focal epilepsy with variable foci
  • c.871+13T>A Multiple submitters familial focal epilepsy with variable foci
  • c.946+10G>C Multiple submitters familial focal epilepsy with variable foci
  • p.Ala1208= Multiple submitters familial focal epilepsy with variable foci
  • p.Ala1392= Multiple submitters familial focal epilepsy with variable foci
  • p.Ala1600= Multiple submitters familial focal epilepsy with variable foci
  • p.Ala426= Multiple submitters familial focal epilepsy with variable foci
  • p.Ala751= Multiple submitters familial focal epilepsy with variable foci
  • p.Ala928= Multiple submitters familial focal epilepsy with variable foci
  • p.Arg1479= Multiple submitters Inborn genetic diseases
  • p.Arg999= Multiple submitters familial focal epilepsy with variable foci
  • p.Asn451= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp1122= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp1160= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp46= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp460= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp46Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp522= Multiple submitters familial focal epilepsy with variable foci
  • p.Asp678= Multiple submitters Inborn genetic diseases
  • p.Asp787= Multiple submitters familial focal epilepsy with variable foci
  • p.Glu991= Multiple submitters familial focal epilepsy with variable foci
  • p.Gly15= Multiple submitters Inborn genetic diseases
  • p.His1279= Multiple submitters familial focal epilepsy with variable foci
  • p.Ile968= Multiple submitters familial focal epilepsy with variable foci
  • p.Leu1398= Multiple submitters Inborn genetic diseases
  • p.Leu1587= Multiple submitters Inborn genetic diseases
  • p.Leu203= Multiple submitters familial focal epilepsy with variable foci
  • p.Leu271= Multiple submitters familial focal epilepsy with variable foci
  • p.Leu469= Multiple submitters familial focal epilepsy with variable foci
  • p.Leu558= Multiple submitters familial focal epilepsy with variable foci
  • p.Phe1399= Multiple submitters familial focal epilepsy with variable foci
  • p.Phe250Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe601= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro1202= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro1603= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro338= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro430= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro470= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro472= Multiple submitters Inborn genetic diseases
  • p.Pro750= Multiple submitters familial focal epilepsy with variable foci
  • p.Pro950= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1002= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1067= Multiple submitters Inborn genetic diseases
  • p.Ser1075= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1104= Multiple submitters Inborn genetic diseases
  • p.Ser1207= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1244= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1533= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1561= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser1593= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser503= Multiple submitters familial focal epilepsy with variable foci
  • p.Ser897= Multiple submitters Inborn genetic diseases
  • p.Thr1010= Multiple submitters familial focal epilepsy with variable foci
  • p.Thr1018= Multiple submitters Inborn genetic diseases
  • p.Thr1081Pro Multiple submitters Inborn genetic diseases
  • p.Thr1563= Multiple submitters Inborn genetic diseases
  • p.Thr337= Multiple submitters familial focal epilepsy with variable foci
  • p.Thr726= Multiple submitters Inborn genetic diseases
  • p.Thr864= Multiple submitters familial focal epilepsy with variable foci
  • p.Thr944= Multiple submitters Inborn genetic diseases
  • p.Thr954= Multiple submitters familial focal epilepsy with variable foci
  • p.Tyr775= Multiple submitters familial focal epilepsy with variable foci
  • p.Tyr86= Multiple submitters familial focal epilepsy with variable foci
  • p.Val1417= Multiple submitters Inborn genetic diseases
  • p.Val586= Multiple submitters familial focal epilepsy with variable foci
  • c.1081+18G>A Single submitter familial focal epilepsy with variable foci
  • c.1081+9C>T Single submitter familial focal epilepsy with variable foci
  • c.1082-10C>T Single submitter familial focal epilepsy with variable foci
  • c.1082-11T>C Single submitter familial focal epilepsy with variable foci
  • c.1082-13T>C Single submitter familial focal epilepsy with variable foci
  • c.1082-220G>T Single submitter
  • c.1082-4T>G Single submitter familial focal epilepsy with variable foci
  • c.1082-6T>C Single submitter familial focal epilepsy with variable foci
  • c.1082-8T>G Single submitter familial focal epilepsy with variable foci
  • c.1143+13C>A Single submitter familial focal epilepsy with variable foci
  • c.1143+13C>T Single submitter familial focal epilepsy with variable foci
  • c.1143+14G>A Single submitter familial focal epilepsy with variable foci
  • c.1143+16A>G Single submitter familial focal epilepsy with variable foci
  • c.1143+7A>C Single submitter familial focal epilepsy with variable foci
  • c.1143+7A>G Single submitter familial focal epilepsy with variable foci
  • c.1144-19C>G Single submitter familial focal epilepsy with variable foci
  • c.1144-23T>C Single submitter
  • c.1144-9T>C Single submitter familial focal epilepsy with variable foci
  • c.1144-9T>G Single submitter familial focal epilepsy with variable foci
  • c.1217+13T>C Single submitter
  • c.1217+14C>G Single submitter familial focal epilepsy with variable foci
  • c.1217+14C>T Single submitter familial focal epilepsy with variable foci
  • c.1217+15G>A Single submitter familial focal epilepsy with variable foci
  • c.1217+20A>G Single submitter familial focal epilepsy with variable foci
  • c.1217+7G>A Single submitter familial focal epilepsy with variable foci
  • c.1217+8C>A Single submitter familial focal epilepsy with variable foci
  • c.1217+8C>T Single submitter familial focal epilepsy with variable foci
  • c.1217+9G>A Single submitter familial focal epilepsy with variable foci
  • c.1218-13G>A Single submitter familial focal epilepsy with variable foci
  • c.1218-14T>G Single submitter familial focal epilepsy with variable foci
  • c.1218-19_1218-18del Single submitter familial focal epilepsy with variable foci
  • c.1218-20T>C Single submitter familial focal epilepsy with variable foci
  • c.1218-9C>G Single submitter familial focal epilepsy with variable foci
  • c.1287+12T>C Single submitter familial focal epilepsy with variable foci
  • c.1287+15_1287+16del Single submitter familial focal epilepsy with variable foci
  • c.1287+16T>G Single submitter familial focal epilepsy with variable foci
  • c.1287+19T>G Single submitter familial focal epilepsy with variable foci
  • c.1287+67C>T Single submitter
  • c.1288-14A>G Single submitter familial focal epilepsy with variable foci
  • c.1288-4T>G Single submitter familial focal epilepsy with variable foci
  • c.1324+20T>C Single submitter familial focal epilepsy with variable foci
  • c.1324+260G>A Single submitter
  • c.1324+9T>A Single submitter familial focal epilepsy with variable foci
  • c.1325-104T>C Single submitter
  • c.1325-10T>C Single submitter familial focal epilepsy with variable foci
  • c.1445+12G>C Single submitter familial focal epilepsy with variable foci
  • c.1445+16C>G Single submitter familial focal epilepsy with variable foci
  • c.1445+17A>G Single submitter familial focal epilepsy with variable foci
  • c.1445+19T>C Single submitter familial focal epilepsy with variable foci
  • c.1446-12C>T Single submitter familial focal epilepsy with variable foci
  • c.1446-13T>C Single submitter familial focal epilepsy with variable foci
  • c.1446-14C>T Single submitter familial focal epilepsy with variable foci
  • c.1446-7C>G Single submitter familial focal epilepsy with variable foci
  • c.1446-8C>A Single submitter familial focal epilepsy with variable foci
  • c.146+18T>C Single submitter familial focal epilepsy with variable foci
  • c.146+20C>T Single submitter familial focal epilepsy with variable foci
  • c.146+7G>A Single submitter familial focal epilepsy with variable foci
  • c.146+9C>G Single submitter familial focal epilepsy with variable foci
  • c.146+9C>T Single submitter familial focal epilepsy with variable foci
  • c.147-10T>G Single submitter familial focal epilepsy with variable foci
  • c.147-17G>A Single submitter familial focal epilepsy with variable foci
  • c.147-42C>T Single submitter
  • c.147-9_147-6del Single submitter familial focal epilepsy with variable foci
  • c.1666+179T>C Single submitter
  • c.1666+18C>T Single submitter familial focal epilepsy with variable foci
  • c.1666+191_1666+195del Single submitter
  • c.1666+192_1666+195del Single submitter
  • c.1666+205G>A Single submitter
  • c.1666+218A>G Single submitter
  • c.1666+22_1666+25del Single submitter familial focal epilepsy with variable foci
  • c.1666+257T>C Single submitter
  • c.1666+8_1666+30del Single submitter familial focal epilepsy with variable foci
  • c.1666+8T>C Single submitter familial focal epilepsy with variable foci
  • c.1667-14A>G Single submitter familial focal epilepsy with variable foci
  • c.1667-251T>G Single submitter
  • c.1667-4G>A Single submitter familial focal epilepsy with variable foci
  • c.1870+10T>C Single submitter familial focal epilepsy with variable foci
  • c.1870+11T>C Single submitter familial focal epilepsy with variable foci
  • c.1870+13C>G Single submitter familial focal epilepsy with variable foci
  • c.1870+18G>C Single submitter familial focal epilepsy with variable foci
  • c.1870+255del Single submitter
  • c.1870+255dup Single submitter
  • c.1870+8G>T Single submitter familial focal epilepsy with variable foci
  • c.1870+9G>T Single submitter familial focal epilepsy with variable foci
  • c.1871-11dup Single submitter familial focal epilepsy with variable foci
  • c.1871-18G>A Single submitter familial focal epilepsy with variable foci
  • c.1871-18G>C Single submitter familial focal epilepsy with variable foci
  • c.1871-20G>A Single submitter familial focal epilepsy with variable foci
  • c.1871-31A>G Single submitter
  • c.1871-4G>T Single submitter familial focal epilepsy with variable foci
  • c.193+10A>G Single submitter familial focal epilepsy with variable foci
  • c.193+11T>A Single submitter familial focal epilepsy with variable foci
  • c.193+14C>G Single submitter familial focal epilepsy with variable foci
  • c.193+14C>T Single submitter familial focal epilepsy with variable foci
  • c.193+15_193+18del Single submitter familial focal epilepsy with variable foci
  • c.193+19T>C Single submitter familial focal epilepsy with variable foci
  • c.194-13G>A Single submitter familial focal epilepsy with variable foci
  • c.194-16A>G Single submitter familial focal epilepsy with variable foci
  • c.194-19G>A Single submitter familial focal epilepsy with variable foci
  • c.194-9C>G Single submitter familial focal epilepsy with variable foci
  • c.2006+14C>T Single submitter familial focal epilepsy with variable foci
  • c.2006+16G>A Single submitter familial focal epilepsy with variable foci
  • c.2006+19C>T Single submitter familial focal epilepsy with variable foci
  • c.2006+218G>C Single submitter
  • c.2007-11G>T Single submitter familial focal epilepsy with variable foci
  • c.2007-13C>T Single submitter familial focal epilepsy with variable foci
  • c.2007-16G>T Single submitter familial focal epilepsy with variable foci
  • c.2007-268_2007-259del Single submitter
  • c.2007-4G>A Single submitter familial focal epilepsy with variable foci
  • c.2104+10C>G Single submitter familial focal epilepsy with variable foci
  • c.2104+16G>T Single submitter familial focal epilepsy with variable foci
  • c.2104+9del Single submitter familial focal epilepsy with variable foci
  • c.2105-14T>C Single submitter familial focal epilepsy with variable foci
  • c.2105-184C>T Single submitter
  • c.2105-19T>C Single submitter familial focal epilepsy with variable foci
  • c.2105-9T>C Single submitter familial focal epilepsy with variable foci
  • c.2170+16T>G Single submitter familial focal epilepsy with variable foci
  • c.2170+17dup Single submitter familial focal epilepsy with variable foci
  • c.2170+225C>T Single submitter
  • c.2170+7G>A Single submitter familial focal epilepsy with variable foci
  • c.2170+7G>C Single submitter familial focal epilepsy with variable foci
  • c.2171-14G>T Single submitter familial focal epilepsy with variable foci
  • c.2171-15del Single submitter familial focal epilepsy with variable foci
  • c.2171-15T>G Single submitter familial focal epilepsy with variable foci
  • c.2171-16_2171-15del Single submitter familial focal epilepsy with variable foci
  • c.2171-17C>G Single submitter familial focal epilepsy with variable foci
  • c.2171-17C>T Single submitter familial focal epilepsy with variable foci
  • c.2171-20C>T Single submitter familial focal epilepsy with variable foci
  • c.2171-32C>A Single submitter
  • c.2171-8T>G Single submitter familial focal epilepsy with variable foci
  • c.2171-9G>A Single submitter familial focal epilepsy with variable foci
  • c.2354+129_2354+131del Single submitter
  • c.2354+18A>C Single submitter familial focal epilepsy with variable foci
  • c.2354+46C>T Single submitter
  • c.2354+9C>A Single submitter familial focal epilepsy with variable foci
  • c.2355-10T>C Single submitter familial focal epilepsy with variable foci
  • c.2355-11G>A Single submitter familial focal epilepsy with variable foci
  • c.2355-11G>T Single submitter familial focal epilepsy with variable foci
  • c.2355-16C>T Single submitter familial focal epilepsy with variable foci
  • c.2355-19A>G Single submitter familial focal epilepsy with variable foci
  • c.2355-20C>G Single submitter familial focal epilepsy with variable foci
  • c.2515+10T>C Single submitter familial focal epilepsy with variable foci
  • c.2515+11dup Single submitter familial focal epilepsy with variable foci
  • c.2515+16T>C Single submitter familial focal epilepsy with variable foci
  • c.2515+18G>T Single submitter familial focal epilepsy with variable foci
  • c.2515+9T>C Single submitter familial focal epilepsy with variable foci
  • c.2516-15T>C Single submitter familial focal epilepsy with variable foci
  • c.2516-16dup Single submitter familial focal epilepsy with variable foci
  • c.2516-5G>A Single submitter familial focal epilepsy with variable foci
  • c.2633+13A>G Single submitter familial focal epilepsy with variable foci
  • c.2633+15A>G Single submitter familial focal epilepsy with variable foci
  • c.2634-16del Single submitter familial focal epilepsy with variable foci
  • c.2634-4G>A Single submitter familial focal epilepsy with variable foci
  • c.279+11G>A Single submitter familial focal epilepsy with variable foci
  • c.279+13_279+15del Single submitter familial focal epilepsy with variable foci
  • c.279+15T>A Single submitter familial focal epilepsy with variable foci
  • c.279+170T>G Single submitter
  • c.279+7C>G Single submitter familial focal epilepsy with variable foci
  • c.279+9T>G Single submitter familial focal epilepsy with variable foci
  • c.280-11A>G Single submitter familial focal epilepsy with variable foci
  • c.280-20C>A Single submitter familial focal epilepsy with variable foci
  • c.280-5T>C Single submitter familial focal epilepsy with variable foci
  • c.280-8C>T Single submitter familial focal epilepsy with variable foci
  • c.2801+7_2801+20del Single submitter familial focal epilepsy with variable foci
  • c.2801+7G>A Single submitter familial focal epilepsy with variable foci
  • c.2802-10G>T Single submitter familial focal epilepsy with variable foci
  • c.2802-12T>A Single submitter familial focal epilepsy with variable foci
  • c.2802-16T>G Single submitter familial focal epilepsy with variable foci
  • c.2802-222C>T Single submitter
  • c.2802-49A>G Single submitter
  • c.2802-4T>G Single submitter familial focal epilepsy with variable foci
  • c.2802-6C>G Single submitter familial focal epilepsy with variable foci
  • c.2802-7C>T Single submitter familial focal epilepsy with variable foci
  • c.2802-80A>G Single submitter
  • c.3021+11C>A Single submitter familial focal epilepsy with variable foci
  • c.3021+15G>T Single submitter familial focal epilepsy with variable foci
  • c.3021+17C>T Single submitter familial focal epilepsy with variable foci
  • c.3021+19C>T Single submitter familial focal epilepsy with variable foci
  • c.3021+20_3021+21del Single submitter familial focal epilepsy with variable foci
  • c.3022-14C>G Single submitter familial focal epilepsy with variable foci
  • c.3022-14C>T Single submitter familial focal epilepsy with variable foci
  • c.3022-16C>T Single submitter familial focal epilepsy with variable foci
  • c.3022-17C>G Single submitter familial focal epilepsy with variable foci
  • c.3022-6C>T Single submitter familial focal epilepsy with variable foci
  • c.3155+10T>C Single submitter familial focal epilepsy with variable foci
  • c.3155+13T>A Single submitter familial focal epilepsy with variable foci
  • c.3155+13T>G Single submitter familial focal epilepsy with variable foci
  • c.3155+15G>A Single submitter familial focal epilepsy with variable foci
  • c.3155+18G>C Single submitter familial focal epilepsy with variable foci
  • c.3156-11C>T Single submitter familial focal epilepsy with variable foci
  • c.3156-133C>T Single submitter
  • c.3156-16C>T Single submitter familial focal epilepsy with variable foci
  • c.3156-19G>A Single submitter familial focal epilepsy with variable foci
  • c.3156-297G>A Single submitter
  • c.3156-8C>T Single submitter familial focal epilepsy with variable foci
  • c.3264+10G>A Single submitter familial focal epilepsy with variable foci
  • c.3264+12C>T Single submitter familial focal epilepsy with variable foci
  • c.3264+13G>T Single submitter familial focal epilepsy with variable foci
  • c.3264+14C>T Single submitter familial focal epilepsy with variable foci
  • c.3264+15G>A Single submitter familial focal epilepsy with variable foci
  • c.3264+15G>C Single submitter familial focal epilepsy with variable foci
  • c.3264+17T>A Single submitter familial focal epilepsy with variable foci
  • c.3264+17T>C Single submitter familial focal epilepsy with variable foci
  • c.3264+7del Single submitter familial focal epilepsy with variable foci
  • c.3265-12C>T Single submitter familial focal epilepsy with variable foci
  • c.3265-16C>A Single submitter familial focal epilepsy with variable foci
  • c.3265-288C>A Single submitter
  • c.3265-9T>C Single submitter familial focal epilepsy with variable foci
  • c.3330+12T>C Single submitter familial focal epilepsy with variable foci

Uncertain significance 1190

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

  • c.1081+4A>G Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.2006+4A>G Multiple submitters familial focal epilepsy with variable foci
  • c.2354+6T>C Multiple submitters familial focal epilepsy with variable foci
  • c.3563+4A>G Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.363+6A>G Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.3697-13A>G Multiple submitters familial focal epilepsy with variable foci
  • c.3805+14C>T Multiple submitters familial focal epilepsy with variable foci
  • c.414-3C>G Multiple submitters epilepsy, familial focal, with variable foci 1
  • c.4203+5G>A Multiple submitters DEPDC5-related disorder
  • c.562+6G>A Multiple submitters familial focal epilepsy with variable foci
  • c.58+4A>G Multiple submitters familial focal epilepsy with variable foci
  • c.59-3C>G Multiple submitters familial focal epilepsy with variable foci
  • c.872-3C>T Multiple submitters epilepsy, familial focal, with variable foci 1
  • p.Ala1011Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1068Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1068Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1091Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1208Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1208Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1225Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1243Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1275Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1275Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1287Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala141Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1425Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala1549Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1562Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala387Thr Multiple submitters DEPDC5-related disorder ⚠
  • p.Ala387Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala452Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala461Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala667Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala955Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ala964Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1001His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1004Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1087Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1098His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1101Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg116Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1249Gln Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Arg1291Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1291His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1366Gln Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Arg1366Leu Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Arg1366Trp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1436Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1518His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1525Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1526Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1527Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1527Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1528Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1543Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1543Trp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1571Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1583Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1583His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1586Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg1586Trp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg239Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg243Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg264Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg324His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg347His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg392His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg392Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg422Gln Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Arg439His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg468Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg474Trp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg487Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg567Gln Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Arg587Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg605Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg637Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg706Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg763Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg806Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg838Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg843Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg845Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg845His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg912Trp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg945Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Arg945His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg997His Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Asn1138His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn1147His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn1377Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn1444Asp Multiple submitters ⚠
  • p.Asn1444Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn1547Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn325Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn325Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn360Asp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn417Asp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asn560Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1114His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp113Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp1160Val Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Asp1267Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp1359Val Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Asp1365Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp1433Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp1433Glu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp159Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp183Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp185Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp189Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp318Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp346Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp346Glu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp346His Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp390Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp395Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp46Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp522Glu Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Asp523Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp556Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp568Glu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp678Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp711Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp784Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Asp850Glu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Cys1204Trp Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Cys125Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Cys1412Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Cys1580Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys416Phe Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln1058del Multiple submitters familial focal epilepsy with variable foci
  • p.Gln1069Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln1110Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1165Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln1232Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln1524Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln260Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln465Glu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gln923Arg Multiple submitters DEPDC5-related disorder ⚠
  • p.Glu101Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu1072Asp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu1182Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu1246Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu1301Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu133Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu1541Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu371Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu665Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu911Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Glu979Lys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly1127Asp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly1143Arg Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Gly1376Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly142dup Multiple submitters familial focal epilepsy with variable foci
  • p.Gly1452Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1545Ser Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Gly154Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly341Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly471Asp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly527Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly645Asp Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly647Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly694Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Gly929Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His1242Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His1279Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His1375Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His1470Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His1470Tyr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His1599Tyr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His32Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His375Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.His633Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His887Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile1260Met Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Ile1386Leu Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Ile1503Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile279Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ile358Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile38Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile38Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile423Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile598Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile630Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile630Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ile936Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Leu1239Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1316Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Leu1388Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Leu1435Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu277Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu277Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu307Arg Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Leu425Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu425Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu840Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Lys1065Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Lys1259Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Lys447Glu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Lys5Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Lys878Gln Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1005Val Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Met1006Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Met1006Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1017Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1083Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1083Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1553Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1553Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met1598Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met332Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Met793Val Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Phe1107Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Phe164Val Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Phe204Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Phe225Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Phe30Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Phe682del Multiple submitters familial focal epilepsy with variable foci
  • p.Phe682Tyr Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Phe901Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Phe946Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro1032Ala Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro1032Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1202Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro1418Ala Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro1434Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro1603Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro1603Leu Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Pro294Ser Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Pro421Ala Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro44Ala Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro470Ser Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Pro676Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro761Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro822Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro822Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro822Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro829Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Pro834Ala Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Pro92Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1073Arg Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Ser1073Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1075Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1099Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1154Phe Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser123Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1244Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1338Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1459Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser1532Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser157Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser157Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser168Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser178Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser213Thr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser241Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser412Tyr Multiple submitters familial focal epilepsy with variable foci
  • p.Ser525Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser547Thr Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Ser548Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser553Gly Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser57Tyr Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser604Phe Multiple submitters DEPDC5-related disorder ⚠
  • p.Ser654Pro Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Ser68Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser897Leu Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser903Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Ser909Ala Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1023Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1029Pro Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1038Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1102Ile Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Thr1118Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1172Asn Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Thr1276Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1353Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1364Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1531Asn Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr1531Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr167Met Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Thr300Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr337Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr409Arg Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr480Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr748Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr889Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr944Ile Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Thr960Met Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Trp1278Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Trp853Ser Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Trp905Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1108Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1253Cys Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Tyr127Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Tyr251Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Tyr408Cys Multiple submitters familial focal epilepsy with variable foci ⚠
  • p.Tyr462Cys Multiple submitters epilepsy, familial focal, with variable foci 1 ⚠
  • p.Tyr7Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr86Cys Multiple submitters Inborn genetic diseases ⚠