JMJD1C — 1560 ClinVar variants

All ClinVar germline JMJD1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 933 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 26 Conflicting · 54 Benign · 10 Benign/Likely benign · 460 Likely benign · 1006 Uncertain significance

Full JMJD1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 933

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.

JMJD1C p.Leu367Pro Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 21

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

JMJD1C p.Ala1053Pro Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala2096Thr Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg449Gln Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg449Trp Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asn156Lys Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Glu965Asp Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gly2063Ser Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gly20Ser Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ile2143Val Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ile389Thr Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ile623Val Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Met1784Val Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro1357Ser Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro506Ala Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro602Ala Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser1690Asn Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser464Leu Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr1178Ala Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr1273Met Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr1313Ala Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr580Ala Conflicting Single submitter
Early Myoclonic Encephalopathy

Predictors lean, ClinVar uncertain 800

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 800

JMJD1C p.Ala1128Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala1337Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala1618Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala2276Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala23Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala23Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala2Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala2Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala446Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala827Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg1198Cys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg1308Cys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg1308His Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg160Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg1615Lys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg2103Gln Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg265Cys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg51Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg934Gln Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Arg968Trp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn1048Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn1116Asp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn1239Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn1360Ile Uncertain significance Multiple submitters
JMJD1C-related disorder
JMJD1C p.Asn1977Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn2234Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn271Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn410Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asn586Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asp1031Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asp1611Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asp1997Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asp568Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gln1003Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gln2407Lys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gln268Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gln847Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu1577Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu1623Asp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu1925Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu2041Lys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu2046Gln Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu2137Lys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu4Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Glu70Gln Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gly1158Asp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gly1349Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Gly343Asp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His1174Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His1188Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His1365Asp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His1789Pro Uncertain significance Multiple submitters
JMJD1C-associated Neurodevelopmental Disorder
JMJD1C p.His1899Asn Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His2328Asp Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His614Tyr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His634Tyr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His780Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His792Pro Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His933Gln Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.His954Arg Uncertain significance Multiple submitters
JMJD1C-related Neurodevelopmental disorder
JMJD1C p.Ile1163Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile1527Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile1694Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile1737Thr Uncertain significance Multiple submitters
JMJD1C-related disorder
JMJD1C p.Ile1833Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile2211Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile437Met Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile777Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile862Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile917Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile938Met Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu1159Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu1343Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu2450Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu2499Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu362Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu574Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu681Gln Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu844His Uncertain significance Multiple submitters
JMJD1C-associated Neurodevelopmental Disorder
JMJD1C p.Lys102Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys1065Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys1293Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys1609Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys2025Asn Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys2236Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys659Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys955Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Met1068Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Met1318Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Met1385Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Met2094Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Phe130Tyr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Phe1792Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Phe738Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro1089Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro1381His Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro2387Ala Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro416Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro416Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro480Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro619Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro642Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro737Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Pro781Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser1055Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser1260Cys Uncertain significance Multiple submitters
JMJD1C p.Ser1439Arg Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser1539Cys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser1638Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser2284Asn Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser25Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser308Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser567Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ser974Thr Uncertain significance Multiple submitters
JMJD1C p.Thr1177Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Thr1526Lys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Thr1922Ala Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Thr490Asn Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Thr747Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Thr759Ala Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Thr776Ser Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val1084Met Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val1466Gly Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val1466Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val1613Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val1673Ala Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val1952Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val2399Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val2488Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val2512Ile Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Val2534Leu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala1053Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1125Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1127Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1129Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1129Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1131Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1240Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1262Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1320Thr Uncertain significance Single submitter
JMJD1C p.Ala1324Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1346Glu Uncertain significance Single submitter
JMJD1C p.Ala1346Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1348Thr Uncertain significance Single submitter
JMJD1C p.Ala1374Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1402Pro Uncertain significance Single submitter
JMJD1C p.Ala1459Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1488Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1491Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1499Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy

Predictors split 111

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

JMJD1C p.Arg1703His Uncertain significance Multiple submitters
JMJD1C-related disorder
JMJD1C p.Arg897Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Asp915Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile1150Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ile1770Thr Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Leu1232Val Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys1151Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Lys707Glu Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Trp205Cys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Tyr2443Cys Uncertain significance Multiple submitters
Early Myoclonic Encephalopathy
JMJD1C p.Ala1303Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1553Thr Uncertain significance Single submitter
JMJD1C p.Ala1588Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala1848Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ala2074Val Uncertain significance Single submitter
JMJD1C p.Arg1107Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg1198Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg1641Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg1696Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg1732Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg1769Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg1843Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg2067Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg2078Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg2309Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg2309His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg279Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg715Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Arg926Thr Uncertain significance Single submitter
JMJD1C p.Asn190Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asn224Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asn283Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asn290Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp1771Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp2110Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp234Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp245Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp2507Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp374His Likely benign Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Asp63Tyr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gln1654His Uncertain significance Single submitter
JMJD1C p.Gln281His Uncertain significance Single submitter
JMJD1C p.Glu1028Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Glu1028Gly Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Glu1635Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Glu1850Lys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Glu2023Val Uncertain significance Single submitter
JMJD1C p.Glu709Lys Uncertain significance Single submitter
JMJD1C p.Gly1672Glu Uncertain significance Single submitter
JMJD1C p.Gly1693Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gly2354Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gly253Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gly253Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Gly918Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.His276Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ile2112Val Uncertain significance Single submitter
JMJD1C p.Ile704Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Leu1555Phe Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Leu1708Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Leu2015Phe Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Leu2109Phe Uncertain significance Single submitter
JMJD1C p.Leu2435Phe Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Leu2435Val Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Leu2454Phe Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys1220Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys1552Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys1552Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys1619Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys174Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys1862Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys1878Asn Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys2019Asn Uncertain significance Single submitter
JMJD1C p.Lys252Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys354Ile Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Lys882Glu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Met223Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Met2274Thr Uncertain significance Single submitter
JMJD1C p.Phe138Cys Uncertain significance Single submitter
JMJD1C p.Phe182Ser Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Phe2367Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro1034Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro1234Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro1695Leu Uncertain significance Single submitter
JMJD1C p.Pro1749Gln Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro186Ser Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro285Thr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Pro702Leu Uncertain significance Single submitter
JMJD1C p.Pro927Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser1091Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser1185Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser1199Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser1624Phe Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser1879Cys Uncertain significance Single submitter
JMJD1C p.Ser1967Tyr Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser2301Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser2384Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Ser320Asn Likely benign Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr1231Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr1556Ala Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Thr1649Pro Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Trp1702Arg Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Trp883Cys Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Tyr714His Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Tyr860Cys Conflicting Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Val1892Met Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Val2116Asp Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Val222Leu Uncertain significance Single submitter
JMJD1C p.Val2308Leu Uncertain significance Single submitter
Early Myoclonic Encephalopathy
JMJD1C p.Val246Asp Uncertain significance Single submitter
JMJD1C p.Val247Gly Uncertain significance Single submitter
JMJD1C p.Thr278Ile Uncertain significance No assertion criteria
JMJD1C-related disorder

All JMJD1C variants

Pathogenic 2

p.Pro109fs Single submitter
p.Ser1056fs Single submitter

Likely pathogenic 2

c.5863-6T>G Single submitter
p.Leu367Pro Single submitter ⚠

Conflicting classifications of pathogenicity 26

c.5863-3T>C Single submitter Early Myoclonic Encephalopathy
p.Ala1053Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala2096Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg449Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg449Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Asn156Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Glu887= Single submitter Early Myoclonic Encephalopathy
p.Glu965Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly2063Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Gly20Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile2143Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile389Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ile623Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Leu1143Phe Single submitter Early Myoclonic Encephalopathy
p.Met1784Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro1357Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro186Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro506Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Pro602Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser1690Asn Single submitter Early Myoclonic Encephalopathy ⚠
p.Ser464Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr1178Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr1273Met Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr1313Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Thr580Ala Single submitter Early Myoclonic Encephalopathy ⚠
p.Tyr860Cys Single submitter Early Myoclonic Encephalopathy ⚠

Benign 54

c.168+10T>C Multiple submitters Early Myoclonic Encephalopathy
c.168+11C>G Multiple submitters Early Myoclonic Encephalopathy
c.447+7A>C Multiple submitters Early Myoclonic Encephalopathy
c.6292-3T>C Multiple submitters Early Myoclonic Encephalopathy
p.Ala272Thr Multiple submitters Early Myoclonic Encephalopathy
p.Arg1328= Multiple submitters Early Myoclonic Encephalopathy
p.Asp2263= Multiple submitters Early Myoclonic Encephalopathy
p.Asp2400Glu Multiple submitters Early Myoclonic Encephalopathy
p.Glu2535Asp Multiple submitters Early Myoclonic Encephalopathy
p.Gly253= Multiple submitters Early Myoclonic Encephalopathy
p.Leu2316= Multiple submitters Early Myoclonic Encephalopathy
p.Met591Val Multiple submitters Early Myoclonic Encephalopathy
p.Pro1980= Multiple submitters Early Myoclonic Encephalopathy
p.Pro1980Leu Multiple submitters Early Myoclonic Encephalopathy
p.Ser1317= Multiple submitters Early Myoclonic Encephalopathy
p.Ser464Thr Multiple submitters Early Myoclonic Encephalopathy
p.Ser561Cys Multiple submitters Early Myoclonic Encephalopathy
p.Thr516Ser Multiple submitters Early Myoclonic Encephalopathy
p.Thr650Ile Multiple submitters Early Myoclonic Encephalopathy
c.168+10_168+11delinsCG Single submitter Early Myoclonic Encephalopathy
c.2695-19dup Single submitter Early Myoclonic Encephalopathy
c.2695-20TTGTT[4] Single submitter Early Myoclonic Encephalopathy
c.334-9del Single submitter Early Myoclonic Encephalopathy
c.334-9dup Single submitter
c.5074+17_5074+21del Single submitter Early Myoclonic Encephalopathy
c.5075-5del Single submitter Early Myoclonic Encephalopathy
c.5276+15G>T Single submitter Early Myoclonic Encephalopathy
c.5492-12dup Single submitter Early Myoclonic Encephalopathy
c.554-11dup Single submitter Early Myoclonic Encephalopathy
c.554-4del Single submitter Early Myoclonic Encephalopathy
c.6292-10del Single submitter Early Myoclonic Encephalopathy
c.6571-15T>C Single submitter Early Myoclonic Encephalopathy
c.678+17A>T Single submitter Early Myoclonic Encephalopathy
c.7401+13T>C Single submitter Early Myoclonic Encephalopathy
c.7402-14dup Single submitter Early Myoclonic Encephalopathy
p.Ala2208= Single submitter Early Myoclonic Encephalopathy
p.Asn1239= Single submitter Early Myoclonic Encephalopathy
p.Gln838= Single submitter Early Myoclonic Encephalopathy
p.Gly1158_Leu1159del Single submitter Early Myoclonic Encephalopathy
p.His443_Glu444delinsGln Single submitter Early Myoclonic Encephalopathy
p.Leu2009= Single submitter Early Myoclonic Encephalopathy
p.Leu2390Val Single submitter
p.Lys1060Glu Single submitter Early Myoclonic Encephalopathy
p.Lys328del Single submitter Early Myoclonic Encephalopathy
p.Lys637Arg Single submitter Early Myoclonic Encephalopathy
p.Met460Thr Single submitter Early Myoclonic Encephalopathy
p.Phe1757= Single submitter Early Myoclonic Encephalopathy
p.Ser1379= Single submitter Early Myoclonic Encephalopathy
p.Ser1470= Single submitter Early Myoclonic Encephalopathy
p.Thr1096= Single submitter Early Myoclonic Encephalopathy
p.Thr1196= Single submitter Early Myoclonic Encephalopathy
p.Thr1396= Single submitter Early Myoclonic Encephalopathy
p.Thr1453= Single submitter Early Myoclonic Encephalopathy
p.Thr783= Single submitter Early Myoclonic Encephalopathy

Benign/Likely benign 10

c.6570+3G>A Multiple submitters Early Myoclonic Encephalopathy
p.Arg368Gln Multiple submitters Early Myoclonic Encephalopathy
p.Glu1269= Multiple submitters Early Myoclonic Encephalopathy
p.Glu2531= Multiple submitters Early Myoclonic Encephalopathy
p.His679= Multiple submitters Early Myoclonic Encephalopathy
p.Leu876= Multiple submitters Early Myoclonic Encephalopathy
p.Pro944= Multiple submitters Early Myoclonic Encephalopathy
p.Ser464= Multiple submitters Early Myoclonic Encephalopathy
p.Tyr2278= Multiple submitters Early Myoclonic Encephalopathy
p.Val233= Multiple submitters Early Myoclonic Encephalopathy

Likely benign 460

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

c.822+14T>C Multiple submitters Early Myoclonic Encephalopathy
p.Ala1240= Multiple submitters Early Myoclonic Encephalopathy
p.Ala1403= Multiple submitters Early Myoclonic Encephalopathy
p.Ala1499= Multiple submitters Early Myoclonic Encephalopathy
p.Arg1072Cys Multiple submitters Early Myoclonic Encephalopathy
p.Asn1945= Multiple submitters Early Myoclonic Encephalopathy
p.Asp568Val Multiple submitters Early Myoclonic Encephalopathy
p.Gln1009= Multiple submitters Early Myoclonic Encephalopathy
p.Glu2531Lys Multiple submitters Early Myoclonic Encephalopathy
p.Gly846= Multiple submitters Early Myoclonic Encephalopathy
p.His954= Multiple submitters Early Myoclonic Encephalopathy
p.Ile1603Thr Multiple submitters Early Myoclonic Encephalopathy
p.Ile623Thr Multiple submitters Early Myoclonic Encephalopathy
p.Lys1462Asn Multiple submitters Early Myoclonic Encephalopathy
p.Lys1803= Multiple submitters Early Myoclonic Encephalopathy
p.Pro322= Multiple submitters Early Myoclonic Encephalopathy
p.Ser1429Leu Multiple submitters Early Myoclonic Encephalopathy
p.Ser1460= Multiple submitters Early Myoclonic Encephalopathy
p.Thr1394Ser Multiple submitters Early Myoclonic Encephalopathy
p.Val19Asp Multiple submitters Early Myoclonic Encephalopathy
p.Leu15= Single submitter Early Myoclonic Encephalopathy
c.1015+9C>T Single submitter Early Myoclonic Encephalopathy
c.1016-17T>C Single submitter Early Myoclonic Encephalopathy
c.168+10del Single submitter Early Myoclonic Encephalopathy
c.168+18C>T Single submitter Early Myoclonic Encephalopathy
c.168+19C>T Single submitter Early Myoclonic Encephalopathy
c.168+20C>G Single submitter Early Myoclonic Encephalopathy
c.168+9_168+11delinsACG Single submitter Early Myoclonic Encephalopathy
c.168+9G>A Single submitter Early Myoclonic Encephalopathy
c.169-11T>G Single submitter Early Myoclonic Encephalopathy
c.169-18G>A Single submitter Early Myoclonic Encephalopathy
c.2694+10A>T Single submitter Early Myoclonic Encephalopathy
c.2694+16G>T Single submitter Early Myoclonic Encephalopathy
c.2695-9T>C Single submitter Early Myoclonic Encephalopathy
c.2867+13G>T Single submitter Early Myoclonic Encephalopathy
c.2867+18T>G Single submitter Early Myoclonic Encephalopathy
c.2867+19A>C Single submitter Early Myoclonic Encephalopathy
c.2868-8C>T Single submitter Early Myoclonic Encephalopathy
c.2868-9T>C Single submitter Early Myoclonic Encephalopathy
c.333+10A>C Single submitter Early Myoclonic Encephalopathy
c.333+10A>G Single submitter Early Myoclonic Encephalopathy
c.333+10A>T Single submitter Early Myoclonic Encephalopathy
c.333+14C>G Single submitter Early Myoclonic Encephalopathy
c.334-19A>T Single submitter Early Myoclonic Encephalopathy
c.334-20A>T Single submitter Early Myoclonic Encephalopathy
c.447+17T>G Single submitter Early Myoclonic Encephalopathy
c.447+9T>G Single submitter Early Myoclonic Encephalopathy
c.448-10A>G Single submitter Early Myoclonic Encephalopathy
c.5074+13C>T Single submitter Early Myoclonic Encephalopathy
c.5074+14T>C Single submitter Early Myoclonic Encephalopathy
c.5074+8dup Single submitter Early Myoclonic Encephalopathy
c.5075-10G>A Single submitter Early Myoclonic Encephalopathy
c.5075-16C>A Single submitter Early Myoclonic Encephalopathy
c.5075-17T>A Single submitter Early Myoclonic Encephalopathy
c.5277-8T>C Single submitter Early Myoclonic Encephalopathy
c.5491+14A>G Single submitter Early Myoclonic Encephalopathy
c.5491+17T>C Single submitter Early Myoclonic Encephalopathy
c.5492-7A>G Single submitter Early Myoclonic Encephalopathy
c.5492-9G>A Single submitter Early Myoclonic Encephalopathy
c.554-15T>C Single submitter Early Myoclonic Encephalopathy
c.554-17C>G Single submitter Early Myoclonic Encephalopathy
c.5644+13G>A Single submitter Early Myoclonic Encephalopathy
c.5645-9A>G Single submitter Early Myoclonic Encephalopathy
c.5734+13T>G Single submitter Early Myoclonic Encephalopathy
c.5734+20G>A Single submitter Early Myoclonic Encephalopathy
c.5734+9A>G Single submitter Early Myoclonic Encephalopathy
c.5735-4G>A Single submitter Early Myoclonic Encephalopathy
c.5862+10_5862+11del Single submitter Early Myoclonic Encephalopathy
c.5862+18G>T Single submitter Early Myoclonic Encephalopathy
c.5862+8A>G Single submitter Early Myoclonic Encephalopathy
c.6076+7A>G Single submitter Early Myoclonic Encephalopathy
c.6077-11T>A Single submitter Early Myoclonic Encephalopathy
c.6077-15A>G Single submitter Early Myoclonic Encephalopathy
c.6292-21_6292-19del Single submitter Early Myoclonic Encephalopathy
c.6292-8C>T Single submitter Early Myoclonic Encephalopathy
c.6570+10_6570+11del Single submitter Early Myoclonic Encephalopathy
c.6570+13G>A Single submitter Early Myoclonic Encephalopathy
c.6570+13G>T Single submitter Early Myoclonic Encephalopathy
c.6570+17G>A Single submitter Early Myoclonic Encephalopathy
c.6570+20A>G Single submitter Early Myoclonic Encephalopathy
c.6571-11_6571-8del Single submitter Early Myoclonic Encephalopathy
c.6571-20T>C Single submitter Early Myoclonic Encephalopathy
c.6571-9A>G Single submitter Early Myoclonic Encephalopathy
c.6740-16del Single submitter Early Myoclonic Encephalopathy
c.6740-3dup Single submitter Early Myoclonic Encephalopathy
c.6740-7C>T Single submitter Early Myoclonic Encephalopathy
c.678+13A>C Single submitter Early Myoclonic Encephalopathy
c.678+13A>G Single submitter Early Myoclonic Encephalopathy
c.678+14C>T Single submitter Early Myoclonic Encephalopathy
c.678+15T>C Single submitter Early Myoclonic Encephalopathy
c.678+16A>C Single submitter Early Myoclonic Encephalopathy
c.678+16A>G Single submitter Early Myoclonic Encephalopathy
c.679-5A>T Single submitter Early Myoclonic Encephalopathy
c.6830+10T>G Single submitter Early Myoclonic Encephalopathy
c.6831-20G>A Single submitter Early Myoclonic Encephalopathy
c.6831-4T>C Single submitter Early Myoclonic Encephalopathy
c.6961+14C>T Single submitter Early Myoclonic Encephalopathy
c.6962-20A>C Single submitter Early Myoclonic Encephalopathy
c.7084+11_7084+15del Single submitter Early Myoclonic Encephalopathy
c.7084+12A>G Single submitter Early Myoclonic Encephalopathy
c.7085-16T>C Single submitter Early Myoclonic Encephalopathy
c.7085-17A>G Single submitter Early Myoclonic Encephalopathy
c.7085-9T>G Single submitter Early Myoclonic Encephalopathy
c.7224+14T>C Single submitter Early Myoclonic Encephalopathy
c.7401+11A>C Single submitter Early Myoclonic Encephalopathy
c.7401+12C>T Single submitter Early Myoclonic Encephalopathy
c.7401+16T>C Single submitter Early Myoclonic Encephalopathy
c.7402-19dup Single submitter Early Myoclonic Encephalopathy
c.7533+17C>T Single submitter Early Myoclonic Encephalopathy
c.7534-12C>T Single submitter Early Myoclonic Encephalopathy
c.7534-12del Single submitter Early Myoclonic Encephalopathy
c.7534-14A>G Single submitter Early Myoclonic Encephalopathy
c.7534-16T>C Single submitter Early Myoclonic Encephalopathy
c.7534-9C>A Single submitter Early Myoclonic Encephalopathy
c.822+19A>G Single submitter Early Myoclonic Encephalopathy
c.823-16A>C Single submitter Early Myoclonic Encephalopathy
c.823-8_823-6del Single submitter Early Myoclonic Encephalopathy
p.Ala1053= Single submitter Early Myoclonic Encephalopathy
p.Ala1125= Single submitter Early Myoclonic Encephalopathy
p.Ala1128= Single submitter Early Myoclonic Encephalopathy
p.Ala1129= Single submitter Early Myoclonic Encephalopathy
p.Ala1202= Single submitter Early Myoclonic Encephalopathy
p.Ala127= Single submitter Early Myoclonic Encephalopathy
p.Ala1303= Single submitter Early Myoclonic Encephalopathy
p.Ala1346= Single submitter Early Myoclonic Encephalopathy
p.Ala1348= Single submitter Early Myoclonic Encephalopathy
p.Ala1488= Single submitter Early Myoclonic Encephalopathy
p.Ala1491= Single submitter Early Myoclonic Encephalopathy
p.Ala1538= Single submitter Early Myoclonic Encephalopathy
p.Ala1553= Single submitter Early Myoclonic Encephalopathy
p.Ala2462= Single submitter Early Myoclonic Encephalopathy
p.Ala280= Single submitter Early Myoclonic Encephalopathy
p.Ala288= Single submitter Early Myoclonic Encephalopathy
p.Ala39= Single submitter Early Myoclonic Encephalopathy
p.Ala766= Single submitter Early Myoclonic Encephalopathy
p.Ala806= Single submitter Early Myoclonic Encephalopathy
p.Ala818= Single submitter Early Myoclonic Encephalopathy
p.Ala827= Single submitter Early Myoclonic Encephalopathy
p.Ala90= Single submitter Early Myoclonic Encephalopathy
p.Arg1023His Single submitter Early Myoclonic Encephalopathy
p.Arg1184= Single submitter Early Myoclonic Encephalopathy
p.Arg1615= Single submitter Early Myoclonic Encephalopathy
p.Arg1703= Single submitter Early Myoclonic Encephalopathy
p.Arg1732= Single submitter Early Myoclonic Encephalopathy
p.Arg198= Single submitter Early Myoclonic Encephalopathy
p.Arg2078= Single submitter Early Myoclonic Encephalopathy
p.Arg2248= Single submitter Early Myoclonic Encephalopathy
p.Arg24= Single submitter Early Myoclonic Encephalopathy
p.Arg261= Single submitter Early Myoclonic Encephalopathy
p.Arg35= Single submitter
p.Arg449= Single submitter Early Myoclonic Encephalopathy
p.Arg6= Single submitter
p.Arg994= Single submitter Early Myoclonic Encephalopathy
p.Asn1002His Single submitter Early Myoclonic Encephalopathy
p.Asn1279= Single submitter Early Myoclonic Encephalopathy
p.Asn1371= Single submitter Early Myoclonic Encephalopathy
p.Asn1765= Single submitter Early Myoclonic Encephalopathy
p.Asn1937= Single submitter Early Myoclonic Encephalopathy
p.Asn1950= Single submitter Early Myoclonic Encephalopathy
p.Asn1998Thr Single submitter Early Myoclonic Encephalopathy
p.Asn2151= Single submitter Early Myoclonic Encephalopathy
p.Asn2202= Single submitter Early Myoclonic Encephalopathy
p.Asn2234= Single submitter Early Myoclonic Encephalopathy
p.Asn2292= Single submitter Early Myoclonic Encephalopathy
p.Asn2540= Single submitter Early Myoclonic Encephalopathy
p.Asn271= Single submitter Early Myoclonic Encephalopathy
p.Asn299= Single submitter Early Myoclonic Encephalopathy
p.Asn340= Single submitter Early Myoclonic Encephalopathy
p.Asn371Ser Single submitter Early Myoclonic Encephalopathy
p.Asn399= Single submitter Early Myoclonic Encephalopathy
p.Asn429Asp Single submitter
p.Asn525= Single submitter Early Myoclonic Encephalopathy
p.Asn855= Single submitter Early Myoclonic Encephalopathy
p.Asp1069= Single submitter Early Myoclonic Encephalopathy
p.Asp137= Single submitter Early Myoclonic Encephalopathy
p.Asp150= Single submitter Early Myoclonic Encephalopathy
p.Asp1599= Single submitter Early Myoclonic Encephalopathy
p.Asp1701= Single submitter Early Myoclonic Encephalopathy
p.Asp1719= Single submitter Early Myoclonic Encephalopathy
p.Asp2269= Single submitter Early Myoclonic Encephalopathy
p.Asp2480= Single submitter Early Myoclonic Encephalopathy
p.Asp358= Single submitter Early Myoclonic Encephalopathy
p.Asp374His Single submitter Early Myoclonic Encephalopathy ⚠
p.Asp49= Single submitter Early Myoclonic Encephalopathy
p.Asp515Gly Single submitter Early Myoclonic Encephalopathy
p.Asp562= Single submitter Early Myoclonic Encephalopathy
p.Asp980= Single submitter Early Myoclonic Encephalopathy
p.Cys16= Single submitter Early Myoclonic Encephalopathy
p.Cys1846= Single submitter Early Myoclonic Encephalopathy
p.Cys1863= Single submitter Early Myoclonic Encephalopathy
p.Cys1868= Single submitter Early Myoclonic Encephalopathy
p.Cys2225= Single submitter Early Myoclonic Encephalopathy
p.Cys2317= Single submitter Early Myoclonic Encephalopathy
p.Gln1134= Single submitter Early Myoclonic Encephalopathy
p.Gln135= Single submitter Early Myoclonic Encephalopathy
p.Gln1373= Single submitter Early Myoclonic Encephalopathy
p.Gln1537= Single submitter Early Myoclonic Encephalopathy
p.Gln1658= Single submitter Early Myoclonic Encephalopathy
p.Gln1778= Single submitter Early Myoclonic Encephalopathy
p.Gln1815= Single submitter Early Myoclonic Encephalopathy
p.Gln2006= Single submitter Early Myoclonic Encephalopathy
p.Gln2018= Single submitter Early Myoclonic Encephalopathy
p.Gln2035Pro Single submitter Early Myoclonic Encephalopathy
p.Gln204= Single submitter Early Myoclonic Encephalopathy
p.Gln298= Single submitter Early Myoclonic Encephalopathy
p.Gln302= Single submitter Early Myoclonic Encephalopathy
p.Gln431= Single submitter Early Myoclonic Encephalopathy
p.Gln457= Single submitter Early Myoclonic Encephalopathy
p.Gln771= Single submitter Early Myoclonic Encephalopathy
p.Gln832= Single submitter Early Myoclonic Encephalopathy
p.Gln833= Single submitter Early Myoclonic Encephalopathy
p.Gln840= Single submitter Early Myoclonic Encephalopathy
p.Glu1157= Single submitter Early Myoclonic Encephalopathy
p.Glu1623= Single submitter Early Myoclonic Encephalopathy
p.Glu1723= Single submitter Early Myoclonic Encephalopathy
p.Glu1796= Single submitter Early Myoclonic Encephalopathy
p.Glu1820= Single submitter Early Myoclonic Encephalopathy
p.Glu1925= Single submitter Early Myoclonic Encephalopathy
p.Glu2038Gln Single submitter Early Myoclonic Encephalopathy
p.Glu2134= Single submitter Early Myoclonic Encephalopathy
p.Glu22= Single submitter Early Myoclonic Encephalopathy
p.Glu2209= Single submitter Early Myoclonic Encephalopathy
p.Glu2369= Single submitter Early Myoclonic Encephalopathy
p.Glu2538= Single submitter Early Myoclonic Encephalopathy
p.Glu329= Single submitter Early Myoclonic Encephalopathy
p.Glu357= Single submitter Early Myoclonic Encephalopathy
p.Glu670= Single submitter Early Myoclonic Encephalopathy
p.Gly1161= Single submitter Early Myoclonic Encephalopathy
p.Gly1336= Single submitter Early Myoclonic Encephalopathy
p.Gly1712= Single submitter Early Myoclonic Encephalopathy
p.Gly20= Single submitter Early Myoclonic Encephalopathy
p.Gly208= Single submitter Early Myoclonic Encephalopathy
p.Gly2095= Single submitter Early Myoclonic Encephalopathy
p.Gly2414= Single submitter Early Myoclonic Encephalopathy
p.Gly40= Single submitter Early Myoclonic Encephalopathy
p.Gly669= Single submitter Early Myoclonic Encephalopathy
p.Gly785= Single submitter Early Myoclonic Encephalopathy
p.Gly918= Single submitter Early Myoclonic Encephalopathy
p.His1166= Single submitter Early Myoclonic Encephalopathy
p.His1215= Single submitter Early Myoclonic Encephalopathy
p.His1290= Single submitter Early Myoclonic Encephalopathy
p.His1485= Single submitter Early Myoclonic Encephalopathy
p.His1747= Single submitter Early Myoclonic Encephalopathy
p.His1897= Single submitter Early Myoclonic Encephalopathy
p.His2530= Single submitter Early Myoclonic Encephalopathy
p.His825= Single submitter
p.Ile1171= Single submitter Early Myoclonic Encephalopathy
p.Ile1354= Single submitter Early Myoclonic Encephalopathy
p.Ile1523= Single submitter Early Myoclonic Encephalopathy
p.Ile1523Phe Single submitter Early Myoclonic Encephalopathy
p.Ile1523Val Single submitter
p.Ile1737= Single submitter Early Myoclonic Encephalopathy
p.Ile221= Single submitter Early Myoclonic Encephalopathy
p.Ile2409= Single submitter Early Myoclonic Encephalopathy
p.Ile2458= Single submitter Early Myoclonic Encephalopathy
p.Ile258= Single submitter Early Myoclonic Encephalopathy
p.Leu111= Single submitter Early Myoclonic Encephalopathy
p.Leu1136= Single submitter Early Myoclonic Encephalopathy
p.Leu1149= Single submitter Early Myoclonic Encephalopathy
p.Leu116= Single submitter Early Myoclonic Encephalopathy
p.Leu1189= Single submitter Early Myoclonic Encephalopathy
p.Leu1203= Single submitter Early Myoclonic Encephalopathy
p.Leu1227= Single submitter Early Myoclonic Encephalopathy
p.Leu1253= Single submitter Early Myoclonic Encephalopathy
p.Leu1323= Single submitter Early Myoclonic Encephalopathy
p.Leu1345= Single submitter Early Myoclonic Encephalopathy
p.Leu1458Ser Single submitter Early Myoclonic Encephalopathy
p.Leu15= Single submitter Early Myoclonic Encephalopathy
p.Leu1516= Single submitter Early Myoclonic Encephalopathy
p.Leu1550= Single submitter Early Myoclonic Encephalopathy
p.Leu1555= Single submitter Early Myoclonic Encephalopathy
p.Leu159= Single submitter Early Myoclonic Encephalopathy
p.Leu1708= Single submitter Early Myoclonic Encephalopathy
p.Leu1716= Single submitter Early Myoclonic Encephalopathy
p.Leu1869= Single submitter Early Myoclonic Encephalopathy
p.Leu1885= Single submitter Early Myoclonic Encephalopathy
p.Leu1913= Single submitter Early Myoclonic Encephalopathy
p.Leu1956= Single submitter Early Myoclonic Encephalopathy
p.Leu1968= Single submitter Early Myoclonic Encephalopathy
p.Leu2109= Single submitter Early Myoclonic Encephalopathy
p.Leu2168= Single submitter Early Myoclonic Encephalopathy
p.Leu228= Single submitter Early Myoclonic Encephalopathy
p.Leu2282= Single submitter Early Myoclonic Encephalopathy
p.Leu2303= Single submitter Early Myoclonic Encephalopathy
p.Leu2358= Single submitter Early Myoclonic Encephalopathy
p.Leu2364= Single submitter Early Myoclonic Encephalopathy
p.Leu2372= Single submitter
p.Leu2380= Single submitter Early Myoclonic Encephalopathy
p.Leu2418= Single submitter Early Myoclonic Encephalopathy
p.Leu2493= Single submitter Early Myoclonic Encephalopathy
p.Leu362= Single submitter Early Myoclonic Encephalopathy
p.Leu493= Single submitter Early Myoclonic Encephalopathy
p.Leu494= Single submitter Early Myoclonic Encephalopathy
p.Leu808= Single submitter Early Myoclonic Encephalopathy
p.Leu815= Single submitter Early Myoclonic Encephalopathy
p.Leu828= Single submitter Early Myoclonic Encephalopathy
p.Leu836= Single submitter
p.Leu896= Single submitter Early Myoclonic Encephalopathy
p.Leu9= Single submitter Early Myoclonic Encephalopathy
p.Leu946= Single submitter Early Myoclonic Encephalopathy

Uncertain significance 1006

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

p.Ala1128Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala1337Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala1618Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala2276Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala23Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala23Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala2Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala2Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala446Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ala827Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg1023Cys Multiple submitters Early Myoclonic Encephalopathy
p.Arg1198Cys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg1308Cys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg1308His Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg160Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg1615Lys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg1703His Multiple submitters JMJD1C-related disorder ⚠
p.Arg2103Gln Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg265Cys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg51Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg897Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg934Gln Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Arg968Trp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn1048Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn1116Asp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn1239Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn1360Ile Multiple submitters JMJD1C-related disorder ⚠
p.Asn1977Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn2234Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn271Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn410Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asn586Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp1031Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp1611Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp1997Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp568Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Asp915Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gln1003Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gln2407Lys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gln268Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gln847Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu1577Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu1623Asp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu1925Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu2041Lys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu2046Gln Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu2137Lys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu4Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Glu70Gln Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gly1158Asp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gly1349Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Gly33_Arg35del Multiple submitters Early Myoclonic Encephalopathy
p.Gly343Asp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His1174Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His1188Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His1365Asp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His1789Pro Multiple submitters JMJD1C-associated Neurodevelopmental Disorder ⚠
p.His1899Asn Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His2328Asp Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His614Tyr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His634Tyr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His780Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His792Pro Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His933Gln Multiple submitters Early Myoclonic Encephalopathy ⚠
p.His954Arg Multiple submitters JMJD1C-related Neurodevelopmental disorder ⚠
p.Ile1150Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile1163Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile1527Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile1694Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile1737Thr Multiple submitters JMJD1C-related disorder ⚠
p.Ile1770Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile1833Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile2211Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile437Met Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile777Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile862Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile917Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ile938Met Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu1159Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu1232Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu1343Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu2450Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu2499Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu362Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu574Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu681Gln Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Leu844His Multiple submitters JMJD1C-associated Neurodevelopmental Disorder ⚠
p.Leu857Pro Multiple submitters Early Myoclonic Encephalopathy
p.Lys102Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys1065Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys1151Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys1293Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys1609Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys2025Asn Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys2236Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys659Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys707Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Lys955Glu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Met1068Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Met1318Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Met1385Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Met2094Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Phe1035Cys Multiple submitters Early Myoclonic Encephalopathy
p.Phe130Tyr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Phe1792Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Phe738Val Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro1089Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro1381His Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro2387Ala Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro416Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro416Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro480Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro619Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro642Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro737Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Pro781Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser1055Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser1260Cys Multiple submitters ⚠
p.Ser1439Arg Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser1539Cys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser1638Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser2284Asn Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser25Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser308Thr Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser567Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Ser974Thr Multiple submitters ⚠
p.Thr1177Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Thr1526Lys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Thr1922Ala Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Thr490Asn Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Thr747Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Thr759Ala Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Thr776Ser Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Trp205Cys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Tyr2443Cys Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Tyr58Cys Multiple submitters Early Myoclonic Encephalopathy
p.Val1084Met Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val1466Gly Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val1466Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val1613Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val1673Ala Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val1952Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val2399Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val2488Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val2512Ile Multiple submitters Early Myoclonic Encephalopathy ⚠
p.Val2534Leu Multiple submitters Early Myoclonic Encephalopathy ⚠
c.168+1G>T Single submitter Early Myoclonic Encephalopathy
c.168+5G>A Single submitter Early Myoclonic Encephalopathy
c.2694+3A>G Single submitter Early Myoclonic Encephalopathy
c.333+6A>T Single submitter Early Myoclonic Encephalopathy
c.5492-50_5503del Single submitter Early Myoclonic Encephalopathy
c.553+5C>T Single submitter Early Myoclonic Encephalopathy
c.5644+4G>A Single submitter Early Myoclonic Encephalopathy
c.5644+9A>G Single submitter Early Myoclonic Encephalopathy
c.5645-3C>T Single submitter Early Myoclonic Encephalopathy
c.5734+5G>A Single submitter Early Myoclonic Encephalopathy
c.6292-3T>A Single submitter Early Myoclonic Encephalopathy
c.6292-5A>G Single submitter Early Myoclonic Encephalopathy
c.6570+3G>T Single submitter Early Myoclonic Encephalopathy
c.6740-3T>C Single submitter Early Myoclonic Encephalopathy
c.678+4A>G Single submitter Early Myoclonic Encephalopathy
c.678+5A>G Single submitter Early Myoclonic Encephalopathy
c.6830+5G>C Single submitter Early Myoclonic Encephalopathy
c.6831-17A>G Single submitter Early Myoclonic Encephalopathy
c.7084+3_7084+4dup Single submitter Early Myoclonic Encephalopathy
c.7224+6A>C Single submitter Early Myoclonic Encephalopathy
c.7225-2A>G Single submitter neurodevelopmental disorder
c.7401+3A>G Single submitter Early Myoclonic Encephalopathy
c.7533+3A>G Single submitter Early Myoclonic Encephalopathy
c.7533+4A>G Single submitter Early Myoclonic Encephalopathy
c.7534-13A>G Single submitter Early Myoclonic Encephalopathy
c.822+3A>G Single submitter Early Myoclonic Encephalopathy
c.823-13T>A Single submitter Early Myoclonic Encephalopathy
p.Ala1053Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1125Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1127Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1129Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1129Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1131Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1240Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1262Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1303Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1320Thr Single submitter ⚠
p.Ala1324Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1346Glu Single submitter ⚠
p.Ala1346Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1348Thr Single submitter ⚠
p.Ala1374Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1402Pro Single submitter ⚠
p.Ala1459Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1488Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1491Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1499Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1499Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1538_Thr1541delinsValCys Single submitter Early Myoclonic Encephalopathy
p.Ala1553Thr Single submitter ⚠
p.Ala1588Asp Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1588Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1588Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1834Val Single submitter Early Myoclonic Encephalopathy
p.Ala1848Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1887Gly Single submitter ⚠
p.Ala18Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1919Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1919Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala1919Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala2074Val Single submitter ⚠
p.Ala2089Ser Single submitter
p.Ala2146Ser Single submitter ⚠
p.Ala2146Thr Single submitter ⚠
p.Ala2146Val Single submitter ⚠
p.Ala2233Val Single submitter ⚠
p.Ala2276Glu Single submitter ⚠
p.Ala2395Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala2526Pro Single submitter ⚠
p.Ala2526Thr Single submitter ⚠
p.Ala294Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala422Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala522Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala549Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala551Gly Single submitter ⚠
p.Ala582Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala605Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala674Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala7Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala818Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala820Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala827Val Single submitter ⚠
p.Ala852Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala930Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala962Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala962Val Single submitter Early Myoclonic Encephalopathy ⚠
p.Ala971Glu Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1006Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1014Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1024Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1072His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1072Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1107Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1184Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1198His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1198Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg119Ser Single submitter ⚠
p.Arg1328Gln Single submitter Early Myoclonic Encephalopathy
p.Arg1328Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1328Pro Single submitter Early Myoclonic Encephalopathy
p.Arg1332Ile Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg13Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1615Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1616Lys Single submitter ⚠
p.Arg1641Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1681del Single submitter Early Myoclonic Encephalopathy
p.Arg1696Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1732Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1738Cys Single submitter Early Myoclonic Encephalopathy
p.Arg1738His Single submitter Early Myoclonic Encephalopathy
p.Arg1759Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1769Thr Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1837Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1843Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1843Trp Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1877Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg1877Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg2040Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg2067Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg2078Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg2078His Single submitter Early Myoclonic Encephalopathy
p.Arg2103Trp Single submitter Early Myoclonic Encephalopathy
p.Arg2309Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg2309His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg2425Cys Single submitter ⚠
p.Arg2425Gly Single submitter Early Myoclonic Encephalopathy
p.Arg24His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg24Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg279Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg27His Single submitter Early Myoclonic Encephalopathy
p.Arg27Leu Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg27Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg310Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg310His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg32His Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg337Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg337Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg35Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg35Ter Single submitter Early Myoclonic Encephalopathy
p.Arg368Leu Single submitter ⚠
p.Arg368Pro Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg38Ter Single submitter Early Myoclonic Encephalopathy
p.Arg51Cys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg51Ser Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg692Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg6Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg715Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg746Gly Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg814Gln Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg897Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg898Lys Single submitter Early Myoclonic Encephalopathy ⚠
p.Arg926Thr Single submitter ⚠
p.Arg934Trp Single submitter Early Myoclonic Encephalopathy
p.Asn1048Lys Single submitter Early Myoclonic Encephalopathy ⚠