CHD2 — 2441 ClinVar variants

Pathogenic 227

• c.1153+1G>C Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1072Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg114Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg121Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1313Gly Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1313Ter Multiple submitters Inborn genetic diseases
• p.Arg1440Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1546Ter Multiple submitters intellectual disability
• p.Arg1637Ter Multiple submitters Inborn genetic diseases
• p.Arg1679Ter Multiple submitters Inborn genetic diseases
• p.Arg1690Ter Multiple submitters epilepsy
• p.Arg224Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg466Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg485Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg621Trp Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg804Ter Multiple submitters Inborn genetic diseases
• p.Arg809Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg846Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg900Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln1309Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln1392fs Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln1523Ter Multiple submitters intellectual disability
• p.Gln1641Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln328Ter Multiple submitters
• p.Gln366Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu1034Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu1412fs Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu551fs Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1591fs Multiple submitters CHD2-related disorder
• p.Lys1393fs Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro399fs Multiple submitters developmental and epileptic encephalopathy 94
• p.Trp1261Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Tyr1246fs Multiple submitters developmental and epileptic encephalopathy 94
• c.1052+1G>T Single submitter developmental and epileptic encephalopathy 94
• c.1052+2T>C Single submitter developmental and epileptic encephalopathy 94
• c.1153+3_1153+19del Single submitter developmental and epileptic encephalopathy 94
• c.1719+1G>A Single submitter epilepsy
• c.1802_1809+46del Single submitter
• c.2189+1G>T Single submitter
• c.294+3A>G Single submitter developmental and epileptic encephalopathy 94
• c.3067-2A>G Single submitter
• c.4413+1G>A Single submitter
• c.443+3_443+6del Single submitter developmental and epileptic encephalopathy 94
• c.5153+1G>T Single submitter developmental and epileptic encephalopathy 94
• c.5153+2T>C Single submitter developmental and epileptic encephalopathy 94
• c.693-2A>G Single submitter developmental and epileptic encephalopathy 94
• c.693-2A>T Single submitter
• p.Ala1157fs Single submitter developmental and epileptic encephalopathy 94
• p.Ala1254fs Single submitter developmental and epileptic encephalopathy 94
• p.Ala1330fs Single submitter developmental and epileptic encephalopathy 94
• p.Ala723fs Single submitter developmental and epileptic encephalopathy 94
• p.Ala741fs Single submitter Inborn genetic diseases
• p.Ala929_Val934delinsTer Single submitter developmental and epileptic encephalopathy 94
• p.Arg1074fs Single submitter
• p.Arg1093fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg1117Ter Single submitter developmental and epileptic encephalopathy 94
• p.Arg1119fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg1138fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg1152Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1313Pro Single submitter developmental and epileptic encephalopathy 94
• p.Arg1588fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg382fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg550fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg846Gly Single submitter developmental and epileptic encephalopathy 94
• p.Arg900Gly Single submitter developmental and epileptic encephalopathy 94
• p.Asn1218fs Single submitter developmental and epileptic encephalopathy 94
• p.Asn1218Ter Single submitter developmental and epileptic encephalopathy 94
• p.Asn4fs Single submitter developmental and epileptic encephalopathy 94
• p.Asn560Ter Single submitter developmental and epileptic encephalopathy 94
• p.Asn763fs Single submitter developmental and epileptic encephalopathy 94
• p.Asn911Asp Single submitter developmental and epileptic encephalopathy 94
• p.Asn961fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp1086fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp1107_Ser1108insTer Single submitter developmental and epileptic encephalopathy 94
• p.Asp1639fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp1677fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp206fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp209fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp635fs Single submitter developmental and epileptic encephalopathy 94
• p.Cys1505Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln1191Ter Single submitter
• p.Gln1306fs Single submitter developmental and epileptic encephalopathy 94
• p.Gln1392Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln148Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln1561fs Single submitter
• p.Gln1615fs Single submitter Inborn genetic diseases
• p.Gln1667Ter Single submitter
• p.Gln198fs Single submitter developmental and epileptic encephalopathy 94
• p.Gln198Ter Single submitter Inborn genetic diseases
• p.Gln205Ter Single submitter Inborn genetic diseases
• p.Gln367Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln378_Ile379insTer Single submitter developmental and epileptic encephalopathy 94
• p.Gln41fs Single submitter developmental and epileptic encephalopathy 94
• p.Gln463Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln473Ter Single submitter Inborn genetic diseases
• p.Gln488Ter Single submitter
• p.Gln518fs Single submitter developmental and epileptic encephalopathy 94
• p.Gln549Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln63fs Single submitter developmental and epileptic encephalopathy 94
• p.Gln892fs Single submitter
• p.Gln892Ter Single submitter
• p.Gln896Glu Single submitter developmental and epileptic encephalopathy 94
• p.Gln941Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu1036Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu1045Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu1057fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu1058fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu1063Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu1090Ter Single submitter
• p.Glu210Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu247Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu325fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu325Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu345fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu361Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu412Ter Single submitter
• p.Glu775fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu781fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu91Ter Single submitter
• p.Glu923fs Single submitter developmental and epileptic encephalopathy 94
• p.Glu967fs Single submitter developmental and epileptic encephalopathy 94
• p.Gly1651fs Single submitter developmental and epileptic encephalopathy 94
• p.Gly250fs Single submitter developmental and epileptic encephalopathy 94
• p.Gly313fs Single submitter developmental and epileptic encephalopathy 94
• p.Gly839Ala Single submitter developmental and epileptic encephalopathy 94
• p.His1525fs Single submitter Inborn genetic diseases
• p.His1663fs Single submitter developmental and epileptic encephalopathy 94
• p.His620fs Single submitter developmental and epileptic encephalopathy 94
• p.His661fs Single submitter developmental and epileptic encephalopathy 94
• p.His678fs Single submitter developmental and epileptic encephalopathy 94
• p.Ile1067fs Single submitter Lennox-Gastaut syndrome
• p.Ile1509fs Single submitter developmental and epileptic encephalopathy 94
• p.Ile884fs Single submitter developmental and epileptic encephalopathy 94
• p.Ile950fs Single submitter developmental and epileptic encephalopathy 94
• p.Leu1528fs Single submitter Seizure
• p.Leu338fs Single submitter developmental and epileptic encephalopathy 94
• p.Leu461delinsGlnValTer Single submitter developmental and epileptic encephalopathy 94
• p.Leu628fs Single submitter developmental and epileptic encephalopathy 94
• p.Leu628Ter Single submitter developmental and epileptic encephalopathy 94
• p.Leu633fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1022Ter Single submitter developmental and epileptic encephalopathy 94
• p.Lys1053fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1204Ter Single submitter developmental and epileptic encephalopathy 94
• p.Lys1234Ter Single submitter
• p.Lys1343fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1390fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1395fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1558fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1569fs Single submitter
• p.Lys1645fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys219fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys349fs Single submitter intellectual disability
• p.Lys375fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys462Ter Single submitter developmental and epileptic encephalopathy 94
• p.Lys501_Asn502insTer Single submitter developmental and epileptic encephalopathy 94
• p.Lys585fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys702Arg Single submitter developmental and epileptic encephalopathy 94
• p.Lys712Glu Single submitter developmental and epileptic encephalopathy 94
• p.Lys90fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys932Ter Single submitter developmental and epileptic encephalopathy 94
• p.Met1388fs Single submitter
• p.Met1681fs Single submitter developmental and epileptic encephalopathy 94
• p.Met943fs Single submitter developmental and epileptic encephalopathy 94
• p.Phe238fs Single submitter developmental and epileptic encephalopathy 94
• p.Phe437fs Single submitter developmental and epileptic encephalopathy 94
• p.Phe552fs Single submitter
• p.Phe863fs Single submitter developmental and epileptic encephalopathy 94
• p.Phe963fs Single submitter developmental and epileptic encephalopathy 94
• p.Pro1149fs Single submitter
• p.Pro155fs Single submitter developmental and epileptic encephalopathy 94
• p.Ser1183Ter Single submitter
• p.Ser1213_Val1215delinsTer Single submitter developmental and epileptic encephalopathy 94
• p.Ser1235fs Single submitter
• p.Ser132_Glu133insTer Single submitter developmental and epileptic encephalopathy 94
• p.Ser1369Ter Single submitter developmental and epileptic encephalopathy 94
• p.Ser1434_Ser1435insTer Single submitter developmental and epileptic encephalopathy 94
• p.Ser1598Ter Single submitter developmental and epileptic encephalopathy 94
• p.Ser269Ter Single submitter developmental and epileptic encephalopathy 94
• p.Ser293fs Single submitter developmental and epileptic encephalopathy 94
• p.Ser627fs Single submitter developmental and epileptic encephalopathy 94
• p.Ser722Ter Single submitter developmental and epileptic encephalopathy 94
• p.Ser866Ter Single submitter developmental and epileptic encephalopathy 94
• p.Ser955Ter Single submitter developmental and epileptic encephalopathy 94
• p.Ser960Ter Single submitter developmental and epileptic encephalopathy 94
• p.Thr516fs Single submitter developmental and epileptic encephalopathy 94
• p.Thr546fs Single submitter developmental and epileptic encephalopathy 94
• p.Thr595_Tyr596insTer Single submitter developmental and epileptic encephalopathy 94
• p.Thr632fs Single submitter developmental and epileptic encephalopathy 94
• p.Trp1043Ter Single submitter developmental and epileptic encephalopathy 94
• p.Trp1261Cys Single submitter
• p.Trp1261fs Single submitter developmental and epileptic encephalopathy 94
• p.Trp1529Ter Single submitter developmental and epileptic encephalopathy 94
• p.Trp1534Ter Single submitter Inborn genetic diseases
• p.Trp1657fs Single submitter developmental and epileptic encephalopathy 94
• p.Trp314fs Single submitter Inborn genetic diseases
• p.Trp351Ter Single submitter
• p.Trp494Ter Single submitter
• p.Trp499fs Single submitter developmental and epileptic encephalopathy 94
• p.Trp555fs Single submitter developmental and epileptic encephalopathy 94
• p.Trp611Ter Single submitter developmental and epileptic encephalopathy 94
• p.Trp657fs Single submitter developmental and epileptic encephalopathy 94
• p.Trp671Ter Single submitter developmental and epileptic encephalopathy 94
• p.Trp889Ter Single submitter
• p.Tyr1188Ter Single submitter
• p.Tyr1700Ter Single submitter developmental and epileptic encephalopathy 94
• p.Tyr232Ter Single submitter
• p.Tyr476_Leu477insTer Single submitter developmental and epileptic encephalopathy 94
• p.Tyr487fs Single submitter
• p.Tyr525Ter Single submitter developmental and epileptic encephalopathy 94
• p.Tyr533Ter Single submitter Inborn genetic diseases
• p.Tyr913Ter Single submitter developmental and epileptic encephalopathy 94
• p.Val1263fs Single submitter
• p.Val175fs Single submitter Inborn genetic diseases
• p.Val283fs Single submitter developmental and epileptic encephalopathy 94
• p.Val332fs Single submitter autism spectrum disorder
• p.Val562fs Single submitter Inborn genetic diseases
• p.Val605fs Single submitter developmental and epileptic encephalopathy 94
• c.1053-1G>C No assertion criteria epilepsy with myoclonic atonic seizures
• c.1809+1del No assertion criteria developmental and epileptic encephalopathy 94
• c.1810-2A>C No assertion criteria developmental and epileptic encephalopathy 94
• p.Ala1610Val No assertion criteria self-limited epilepsy with centrotemporal spikes ⚠
• p.Glu1335Ter No assertion criteria developmental and epileptic encephalopathy 94
• p.Gly1450fs No assertion criteria intellectual disability
• p.Gly50Asp No assertion criteria self-limited epilepsy with centrotemporal spikes ⚠
• p.Pro1427fs No assertion criteria Sifrim-Hitz-Weiss syndrome
• p.Ser988Ter No assertion criteria complex neurodevelopmental disorder
• p.Tyr737Ter No assertion criteria developmental and epileptic encephalopathy 94

Pathogenic/Likely pathogenic 16

• c.1809+1G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.443+1G>A Multiple submitters Inborn genetic diseases
• p.Arg1137Ter Multiple submitters CHD2-related neurodevelopmental disorder
• p.Arg1152Trp Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg699Trp Multiple submitters intellectual disability
• p.Arg900Gln Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln1498Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln896Ter Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu1006_Asn1007insTer Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly1575_Lys1576insTer Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys174_Val175insTer Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr573= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr645Met Multiple submitters neurodevelopmental disorder
• p.Trp1261Ser Multiple submitters developmental and epileptic encephalopathy 94
• p.Trp1657Ter Multiple submitters Inborn genetic diseases
• p.Tyr316Ter Multiple submitters intellectual disability

Likely pathogenic 117

• c.294+1G>T Multiple submitters developmental and epileptic encephalopathy 94
• c.693-1G>A Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu924del Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly1676Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• c.1053-2A>C Single submitter developmental and epileptic encephalopathy 94
• c.1053-2A>T Single submitter developmental and epileptic encephalopathy 94
• c.1151_1153+4del Single submitter developmental and epileptic encephalopathy 94
• c.1154-1G>T Single submitter developmental and epileptic encephalopathy 94
• c.1154-2A>G Single submitter developmental and epileptic encephalopathy 94
• c.1198+2T>C Single submitter developmental and epileptic encephalopathy 94
• c.1503-2A>G Single submitter developmental and epileptic encephalopathy 94
• c.1720-155_1727delinsT Single submitter developmental and epileptic encephalopathy 94
• c.2190-1G>C Single submitter developmental and epileptic encephalopathy 94
• c.2190-2A>C Single submitter developmental and epileptic encephalopathy 94
• c.2728-1G>A Single submitter developmental and epileptic encephalopathy 94
• c.2876+1G>T Single submitter developmental and epileptic encephalopathy 94
• c.3237+1G>A Single submitter developmental and epileptic encephalopathy 94
• c.3413+1G>C Single submitter Inborn genetic diseases
• c.3414-2A>G Single submitter developmental and epileptic encephalopathy 94
• c.3735-1G>A Single submitter developmental and epileptic encephalopathy 94
• c.381+1G>A Single submitter developmental and epileptic encephalopathy 94
• c.3885_3885+4del Single submitter Inborn genetic diseases
• c.3886-1G>C Single submitter developmental and epileptic encephalopathy 94
• c.4009-2A>G Single submitter developmental and epileptic encephalopathy 94
• c.4137+2T>C Single submitter developmental and epileptic encephalopathy 94
• c.4137+3A>G Single submitter developmental and epileptic encephalopathy 94
• c.4137+3A>T Single submitter
• c.4138-1G>A Single submitter intellectual disability
• c.4278+1G>A Single submitter developmental and epileptic encephalopathy 94
• c.4414-2A>G Single submitter developmental and epileptic encephalopathy 94
• c.4906+1G>T Single submitter developmental and epileptic encephalopathy 94
• c.692+1G>C Single submitter developmental and epileptic encephalopathy 94
• c.693-3C>A Single submitter developmental and epileptic encephalopathy 94
• c.827-2A>G Single submitter CHD2-related disorder
• p.Ala1024fs Single submitter developmental and epileptic encephalopathy 94
• p.Ala824Pro Single submitter developmental and epileptic encephalopathy 94
• p.Ala869Phe Single submitter developmental and epileptic encephalopathy 94
• p.Ala879Gly Single submitter developmental and epileptic encephalopathy 94
• p.Ala897Thr Single submitter developmental and epileptic encephalopathy 94
• p.Arg1052Thr Single submitter ⚠
• p.Arg1074Trp Single submitter developmental and epileptic encephalopathy 94
• p.Arg1152Gly Single submitter developmental and epileptic encephalopathy 94
• p.Arg1512fs Single submitter developmental and epileptic encephalopathy 94
• p.Arg1580His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1644fs Single submitter
• p.Arg621Gln Single submitter
• p.Arg621Pro Single submitter developmental and epileptic encephalopathy 94
• p.Arg809Gly Single submitter developmental and epileptic encephalopathy 94
• p.Arg900Leu Single submitter developmental and epileptic encephalopathy 94
• p.Arg900Pro Single submitter CHD2-related disorder
• p.Arg903Gly Single submitter developmental and epileptic encephalopathy 94
• p.Arg942Leu Single submitter developmental and epileptic encephalopathy 94
• p.Asn890Lys Single submitter developmental and epileptic encephalopathy 94
• p.Asp1266Tyr Single submitter
• p.Asp838fs Single submitter developmental and epileptic encephalopathy 94
• p.Asp888Val Single submitter intellectual disability
• p.Cys1181Phe Single submitter developmental and epileptic encephalopathy 94
• p.Cys415Phe Single submitter developmental and epileptic encephalopathy 94
• p.Gln1594Ter Single submitter developmental and epileptic encephalopathy 94
• p.Gln488Arg Single submitter
• p.Gln531Ter Single submitter
• p.Gln725His Single submitter developmental and epileptic encephalopathy 94
• p.Gln892Arg Single submitter developmental and epileptic encephalopathy 94
• p.Gln906His Single submitter
• p.Gln909His Single submitter epilepsy with myoclonic atonic seizures
• p.Glu1006fs Single submitter
• p.Glu1106fs Single submitter
• p.Glu264Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu694Ter Single submitter developmental and epileptic encephalopathy 94
• p.Glu922Ala Single submitter developmental and epileptic encephalopathy 94
• p.Glu922fs Single submitter developmental and epileptic encephalopathy 94
• p.Gly1130Arg Single submitter developmental and epileptic encephalopathy 94
• p.Gly1174Asp Single submitter
• p.Gly1272Glu Single submitter developmental and epileptic encephalopathy 94
• p.Gly1360fs Single submitter
• p.Gly871Asp Single submitter developmental and epileptic encephalopathy 94
• p.His1631fs Single submitter
• p.His1684Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.His22fs Single submitter Neurodevelopmental delay
• p.His937Asp Single submitter developmental and epileptic encephalopathy 94
• p.Ile1361fs Single submitter
• p.Ile634fs Single submitter developmental and epileptic encephalopathy 94
• p.Ile812Thr Single submitter developmental and epileptic encephalopathy 94
• p.Ile904fs Single submitter developmental and epileptic encephalopathy 94
• p.Leu79fs Single submitter
• p.Leu811Pro Single submitter developmental and epileptic encephalopathy 94
• p.Leu876Phe Single submitter CHD2-related disorder
• p.Leu938Pro Single submitter intellectual disability
• p.Lys1165Glu Single submitter Inborn genetic diseases
• p.Lys1234fs Single submitter developmental and epileptic encephalopathy 94
• p.Lys1285Ter Single submitter
• p.Lys274fs Single submitter
• p.Met511Thr Single submitter Inborn genetic diseases
• p.Phe885del Single submitter developmental and epileptic encephalopathy 94
• p.Pro541Arg Single submitter Inborn genetic diseases
• p.Ser1099fs Single submitter developmental and epileptic encephalopathy 94
• p.Ser130= Single submitter developmental and epileptic encephalopathy 94
• p.Ser1521fs Single submitter developmental and epileptic encephalopathy 94
• p.Ser1538Phe Single submitter developmental and epileptic encephalopathy 94
• p.Ser524fs Single submitter developmental and epileptic encephalopathy 94
• p.Ser543Tyr Single submitter developmental and epileptic encephalopathy 94
• p.Thr573Met Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Thr645Arg Single submitter developmental and epileptic encephalopathy 94
• p.Thr645Lys Single submitter developmental and epileptic encephalopathy 94
• p.Thr647Ile Single submitter intellectual disability
• p.Trp1534Arg Single submitter developmental and epileptic encephalopathy 94
• p.Trp1534Cys Single submitter Inborn genetic diseases
• p.Trp889_Asn890insValLeu Single submitter developmental and epileptic encephalopathy 94
• p.Tyr1143Cys Single submitter developmental and epileptic encephalopathy 94
• p.Tyr307Ter Single submitter
• p.Tyr377Ter Single submitter developmental and epileptic encephalopathy 94
• p.Val1352fs Single submitter developmental and epileptic encephalopathy 94
• p.Val883del Single submitter developmental and epileptic encephalopathy 94
• p.Val939Gly Single submitter developmental and epileptic encephalopathy 94
• p.Asp1370Gly No assertion criteria developmental and epileptic encephalopathy 94 ⚠
• p.His690Tyr No assertion criteria complex neurodevelopmental disorder
• p.Lys932fs No assertion criteria Speech and developmental delay

Conflicting classifications of pathogenicity 109

• c.1052+14C>G Single submitter developmental and epileptic encephalopathy 94
• c.1199-12T>A Single submitter developmental and epileptic encephalopathy 94
• c.1503-5T>C Single submitter developmental and epileptic encephalopathy 94
• c.1720-3T>C Single submitter developmental and epileptic encephalopathy 94
• c.2189+8C>T Single submitter developmental and epileptic encephalopathy 94
• c.2505+4A>G Single submitter developmental and epileptic encephalopathy 94
• c.2506-4A>G Single submitter Inborn genetic diseases
• c.294+5C>T Single submitter Inborn genetic diseases
• c.444-4A>C Single submitter developmental and epileptic encephalopathy 94
• c.4593-3del Single submitter Inborn genetic diseases
• c.4693-3T>C Single submitter developmental and epileptic encephalopathy 94
• c.551+5A>C Single submitter Inborn genetic diseases
• c.692+10A>G Single submitter developmental and epileptic encephalopathy 94
• p.Ala1683Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1683Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala879Val Single submitter Inborn genetic diseases ⚠
• p.Arg1000Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1038Cys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1074Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1116Cys Single submitter Inborn genetic diseases ⚠
• p.Arg1205Lys Single submitter Inborn genetic diseases ⚠
• p.Arg1268Cys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1313Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1345Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1354Lys Single submitter Inborn genetic diseases ⚠
• p.Arg1512Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1588Trp Single submitter Inborn genetic diseases ⚠
• p.Arg1678Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1690Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1707Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1710Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1725Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1743Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1788His Single submitter Inborn genetic diseases ⚠
• p.Arg183Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg190Cys Single submitter Inborn genetic diseases ⚠
• p.Arg199Cys Single submitter Inborn genetic diseases ⚠
• p.Arg199His Single submitter Inborn genetic diseases ⚠
• p.Arg575Gln Single submitter ⚠
• p.Arg846Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg948Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asn1494= Single submitter developmental and epileptic encephalopathy 94
• p.Asn1504Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asn1634Ile Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asn1634Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asn1654Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asn364Ser Single submitter Inborn genetic diseases ⚠
• p.Asn409His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asn953Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asp1164Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asp1410Tyr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asp1717Asn Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Asp211Glu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gln153Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gln153Glu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gln1664Glu Single submitter Inborn genetic diseases ⚠
• p.Gln198His Single submitter Inborn genetic diseases ⚠
• p.Glu1034del Single submitter Inborn genetic diseases
• p.Glu1129Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Glu1198Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Glu1358Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Glu1500Asp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Glu210Asp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Glu251= Single submitter developmental and epileptic encephalopathy 94
• p.Gly1277Ala Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gly1510Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gly1574Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gly275= Single submitter developmental and epileptic encephalopathy 94
• p.Gly294Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gly646Glu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Gly72Cys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.His1233Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.His1662Tyr Single submitter Inborn genetic diseases ⚠
• p.His1684Arg Single submitter Inborn genetic diseases ⚠
• p.His1712Tyr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.His764Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.His902Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ile379Val Single submitter Inborn genetic diseases ⚠
• p.Leu1355Met Single submitter Inborn genetic diseases ⚠
• p.Leu79Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Lys1245fs Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Lys1328del Single submitter CHD2-related disorder
• p.Lys1389Gln Single submitter Inborn genetic diseases ⚠
• p.Lys1389Glu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Lys1391fs Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Lys1605Thr Single submitter Inborn genetic diseases ⚠
• p.Lys349Glu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Lys390= Single submitter developmental and epileptic encephalopathy 94
• p.Lys390Glu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Met1388Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Pro1353Leu Single submitter complex neurodevelopmental disorder ⚠
• p.Pro1609Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Pro1733Ala Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Pro1749Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Pro1791Ala Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Pro665Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Pro80Leu Single submitter Inborn genetic diseases ⚠
• p.Ser1166Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ser1213Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ser1611Phe Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ser1659Asn Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ser75= Single submitter developmental and epileptic encephalopathy 94
• p.Ser866Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Thr744Ile Single submitter Inborn genetic diseases ⚠
• p.Thr801Arg Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Thr920Ile Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Trp1261Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Tyr1143Asp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Val540Ile Single submitter developmental and epileptic encephalopathy 94 ⚠

Benign 136

• c.1052+323A>G Multiple submitters
• c.1153+109G>C Multiple submitters
• c.1377+42T>C Multiple submitters
• c.1719+71C>T Multiple submitters
• c.1720-70A>G Multiple submitters
• c.2190-91A>G Multiple submitters
• c.2353-10A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.2353-56G>A Multiple submitters
• c.2505+39C>G Multiple submitters
• c.2727+38T>G Multiple submitters developmental and epileptic encephalopathy 94
• c.2728-53G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.2876+11G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.2876+39T>C Multiple submitters
• c.294+112T>A Multiple submitters
• c.2973+57A>G Multiple submitters
• c.2974-50A>G Multiple submitters
• c.3237+64A>T Multiple submitters
• c.3413+16G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.3413+42C>T Multiple submitters
• c.3455+186A>G Multiple submitters
• c.3596-20G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.3596-98T>C Multiple submitters
• c.4137+86G>A Multiple submitters
• c.4138-15T>G Multiple submitters developmental and epileptic encephalopathy 94
• c.4278+27A>G Multiple submitters
• c.4278+284G>T Multiple submitters
• c.4278+52A>G Multiple submitters
• c.4279-121T>A Multiple submitters
• c.4413+15C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4413+38C>T Multiple submitters
• c.4414-45C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4592+103C>T Multiple submitters
• c.4692+43A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.4907-65dup Multiple submitters
• c.5153+108C>G Multiple submitters
• c.5153+124C>G Multiple submitters
• c.5153+173G>C Multiple submitters
• c.5153+70T>C Multiple submitters
• c.5154-74C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.5154-75C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.5154-76G>A Multiple submitters
• c.551+152A>G Multiple submitters
• c.551+181G>A Multiple submitters
• c.552-152G>A Multiple submitters
• c.62+40T>G Multiple submitters
• c.693-20C>T Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1093= Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1806= Multiple submitters Inborn genetic diseases
• p.Gln906= Multiple submitters Inborn genetic diseases
• p.Glu683= Multiple submitters Inborn genetic diseases
• p.Gly1574Ala Multiple submitters Inborn genetic diseases
• p.Gly303Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ile1509= Multiple submitters Inborn genetic diseases
• p.Ser1180= Multiple submitters Inborn genetic diseases
• p.Ser1407Thr Multiple submitters Inborn genetic diseases ⚠
• p.Tyr1188= Multiple submitters Inborn genetic diseases
• p.Tyr596= Multiple submitters developmental and epileptic encephalopathy 94
• c.1052+91G>A Single submitter
• c.1053-46C>T Single submitter
• c.1154-113del Single submitter
• c.1199-12dup Single submitter developmental and epileptic encephalopathy 94
• c.1377+301C>T Single submitter
• c.1503-11dup Single submitter developmental and epileptic encephalopathy 94
• c.1503-7T>C Single submitter developmental and epileptic encephalopathy 94
• c.1719+235G>A Single submitter
• c.1810-304A>G Single submitter
• c.2000+24A>G Single submitter
• c.2000+28G>A Single submitter
• c.2001-30C>T Single submitter
• c.2189+251G>T Single submitter
• c.2189+99del Single submitter
• c.2190-144C>G Single submitter
• c.2190-59G>T Single submitter
• c.2352+37C>T Single submitter
• c.2505+152_2505+464del Single submitter Inborn genetic diseases
• c.2505+23T>C Single submitter
• c.2506-46A>G Single submitter
• c.2727+46del Single submitter
• c.2728-44G>A Single submitter
• c.2876+246T>C Single submitter
• c.2877-47T>G Single submitter
• c.295-22G>A Single submitter
• c.295-254_295-253insGTTTAT Single submitter
• c.295-30A>G Single submitter
• c.2974-167T>G Single submitter
• c.2974-56T>C Single submitter
• c.3066+163G>C Single submitter
• c.3066+180G>A Single submitter
• c.3066+21G>A Single submitter
• c.3237+113G>A Single submitter
• c.3237+258G>C Single submitter
• c.3237+285C>T Single submitter
• c.3238-255T>C Single submitter
• c.3414-254C>T Single submitter
• c.3456-31C>T Single submitter
• c.3595+51G>A Single submitter
• c.382-304T>C Single submitter
• c.3886-24G>A Single submitter
• c.3886-366C>T Single submitter
• c.4008+149C>G Single submitter
• c.4008+228T>C Single submitter
• c.4008+237C>T Single submitter
• c.4008+8C>A Single submitter developmental and epileptic encephalopathy 94
• c.4009-211A>T Single submitter
• c.4137+183A>G Single submitter
• c.4137+46A>G Single submitter
• c.4279-122_4279-121insC Single submitter
• c.4279-272T>C Single submitter
• c.4279-6dup Single submitter developmental and epileptic encephalopathy 94
• c.4413+21del Single submitter developmental and epileptic encephalopathy 94
• c.443+18del Single submitter developmental and epileptic encephalopathy 94
• c.443+261C>T Single submitter
• c.444-237dup Single submitter
• c.444-285G>A Single submitter
• c.4593-258G>C Single submitter
• c.4692+199T>A Single submitter
• c.4693-178C>T Single submitter
• c.4693-25T>G Single submitter
• c.4693-47A>G Single submitter
• c.4907-46T>A Single submitter
• c.4907-66_4907-65dup Single submitter
• c.5154-213_5154-210dup Single submitter
• c.5154-250G>A Single submitter
• c.551+13C>T Single submitter developmental and epileptic encephalopathy 94
• c.552-24C>T Single submitter
• c.63-160C>T Single submitter
• c.63-197G>T Single submitter
• c.692+228A>T Single submitter
• c.693-125G>T Single submitter
• c.826+271C>G Single submitter
• c.827-146G>C Single submitter
• c.827-193dup Single submitter
• p.Gln1702Glu Single submitter developmental and epileptic encephalopathy 94
• p.Gly1575Ala Single submitter developmental and epileptic encephalopathy 94
• p.Phe1731Cys Single submitter developmental and epileptic encephalopathy 94
• p.Pro665= Single submitter developmental and epileptic encephalopathy 94

Benign/Likely benign 51

• c.1199-12del Multiple submitters developmental and epileptic encephalopathy 94
• c.1810-3T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.2001-15C>G Multiple submitters developmental and epileptic encephalopathy 94
• c.2577+19T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.2577+7T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.2728-3C>T Multiple submitters Inborn genetic diseases
• c.295-20G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.2973+4A>G Multiple submitters Inborn genetic diseases
• c.3455+19T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.3595+18dup Multiple submitters developmental and epileptic encephalopathy 94
• c.3734+7A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.3886-14C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4009-4C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4138-6T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.4278+5T>C Multiple submitters Inborn genetic diseases
• c.4592+18G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.826+4T>C Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala1134Thr Multiple submitters Inborn genetic diseases
• p.Ala1683= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala177Thr Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala285Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ala87= Multiple submitters Inborn genetic diseases
• p.Arg110= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asn1625Ser Multiple submitters developmental and epileptic encephalopathy 94
• p.Asp1042= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asp1107= Multiple submitters Inborn genetic diseases
• p.Asp1511= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asp297= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln1191= Multiple submitters Inborn genetic diseases
• p.Gln1702= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln172= Multiple submitters Inborn genetic diseases
• p.Gln1756His Multiple submitters Inborn genetic diseases
• p.Gln350Leu Multiple submitters Inborn genetic diseases ⚠
• p.Glu339= Multiple submitters Inborn genetic diseases
• p.Gly1360Arg Multiple submitters Inborn genetic diseases
• p.Gly1651= Multiple submitters Inborn genetic diseases
• p.Gly779= Multiple submitters developmental and epileptic encephalopathy 94
• p.His1684Tyr Multiple submitters Inborn genetic diseases
• p.Leu492= Multiple submitters Inborn genetic diseases
• p.Leu983= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys1411del Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys1428= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys203Arg Multiple submitters Inborn genetic diseases
• p.Pro1603Ser Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro405Leu Multiple submitters Inborn genetic diseases
• p.Ser51= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr1105= Multiple submitters Inborn genetic diseases
• p.Thr320= Multiple submitters Inborn genetic diseases
• p.Thr396= Multiple submitters Inborn genetic diseases
• p.Val1495Met Multiple submitters developmental and epileptic encephalopathy 94
• p.Val910= Multiple submitters Inborn genetic diseases

Likely benign 871

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

• c.1154-103G>C Multiple submitters
• c.1154-5T>A Multiple submitters Inborn genetic diseases
• c.1154-6G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.1377+12G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.1378-18T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.1378-96T>G Multiple submitters
• c.1503-19T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.2505+19T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.2505+26G>T Multiple submitters
• c.2506-11T>G Multiple submitters developmental and epileptic encephalopathy 94
• c.2506-17G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.2727+44C>G Multiple submitters
• c.2727+46A>G Multiple submitters
• c.2728-16G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.2877-15A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.2877-64A>C Multiple submitters
• c.294+18C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.295-17G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.2974-16G>C Multiple submitters developmental and epileptic encephalopathy 94
• c.3067-19A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.3067-6T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.3413+43G>A Multiple submitters
• c.3455+9A>C Multiple submitters developmental and epileptic encephalopathy 94
• c.3456-19C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.3734+20A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.382-179T>C Multiple submitters
• c.4137+16T>G Multiple submitters developmental and epileptic encephalopathy 94
• c.4137+17C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4137+37A>G Multiple submitters
• c.4138-18C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4138-19_4138-18delinsTA Multiple submitters developmental and epileptic encephalopathy 94
• c.4278+15C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.4414-26G>A Multiple submitters
• c.4592+3_4592+5dup Multiple submitters developmental and epileptic encephalopathy 94
• c.4593-19T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.4593-34A>G Multiple submitters
• c.4693-19G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.4906+20T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.4907-15T>A Multiple submitters developmental and epileptic encephalopathy 94
• c.4907-9T>G Multiple submitters developmental and epileptic encephalopathy 94
• c.5153+152A>T Multiple submitters
• c.5154-13A>G Multiple submitters developmental and epileptic encephalopathy 94
• c.552-14T>A Multiple submitters developmental and epileptic encephalopathy 94
• c.62+19C>A Multiple submitters developmental and epileptic encephalopathy 94
• c.63-15C>G Multiple submitters developmental and epileptic encephalopathy 94
• c.826+14G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.*73G>A Multiple submitters
• p.Ala1002= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala1314= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala1337Ser Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala1514= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala226Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala591= Multiple submitters Inborn genetic diseases
• p.Ala901= Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1060= Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1205= Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg1342Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg1345Pro Multiple submitters developmental and epileptic encephalopathy 94
• p.Arg199Pro Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asn1647= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asn439= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asn560= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asn590= Multiple submitters Inborn genetic diseases
• p.Asp1042Glu Multiple submitters complex neurodevelopmental disorder ⚠
• p.Asp1571= Multiple submitters developmental and epileptic encephalopathy 94
• p.Asp346= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln1594= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gln306= Multiple submitters Inborn genetic diseases
• p.Gln328= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu10= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu1161= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu1230= Multiple submitters Inborn genetic diseases
• p.Glu1375= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu159= Multiple submitters Inborn genetic diseases
• p.Glu372= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu457= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu58= Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu923= Multiple submitters Inborn genetic diseases
• p.Glu967= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly1118= Multiple submitters Inborn genetic diseases
• p.Gly1574Glu Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly1649Ser Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly200= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly290= Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly646= Multiple submitters developmental and epileptic encephalopathy 94
• p.His1276= Multiple submitters developmental and epileptic encephalopathy 94
• p.His1662= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ile453= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ile950= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1170= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1248= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1318= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1486= Multiple submitters Inborn genetic diseases
• p.Leu1533= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1548= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu1813= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu271= Multiple submitters Inborn genetic diseases
• p.Leu414= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu697= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu783= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu786= Multiple submitters developmental and epileptic encephalopathy 94
• p.Leu876= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys1243= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys1343= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys233= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys416= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys588= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys759= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys760= Multiple submitters developmental and epileptic encephalopathy 94
• p.Lys931Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Phe834= Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro1298= Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro1344= Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro1478= Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro1749= Multiple submitters Inborn genetic diseases
• p.Pro1790= Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro195= Multiple submitters developmental and epileptic encephalopathy 94
• p.Pro407Leu Multiple submitters Inborn genetic diseases
• p.Ser1197= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ser1213= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ser1435= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ser1659= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ser1686= Multiple submitters developmental and epileptic encephalopathy 94
• p.Ser1728= Multiple submitters Inborn genetic diseases
• p.Ser53Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser955= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr1301= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr240= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr867= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr945= Multiple submitters developmental and epileptic encephalopathy 94
• p.Thr949= Multiple submitters developmental and epileptic encephalopathy 94
• p.Tyr1665= Multiple submitters developmental and epileptic encephalopathy 94
• p.Tyr533= Multiple submitters developmental and epileptic encephalopathy 94
• p.Val1495= Multiple submitters developmental and epileptic encephalopathy 94
• p.Val266= Multiple submitters developmental and epileptic encephalopathy 94
• p.Val934= Multiple submitters developmental and epileptic encephalopathy 94
• c.1052+114A>T Single submitter
• c.1052+11C>T Single submitter developmental and epileptic encephalopathy 94
• c.1052+12A>G Single submitter developmental and epileptic encephalopathy 94
• c.1052+12A>T Single submitter
• c.1052+15A>G Single submitter developmental and epileptic encephalopathy 94
• c.1052+16T>C Single submitter developmental and epileptic encephalopathy 94
• c.1052+17G>A Single submitter developmental and epileptic encephalopathy 94
• c.1053-11C>G Single submitter developmental and epileptic encephalopathy 94
• c.1053-17G>A Single submitter developmental and epileptic encephalopathy 94
• c.1053-181_1053-180del Single submitter
• c.1053-300C>T Single submitter
• c.1153+4_1153+7dup Single submitter developmental and epileptic encephalopathy 94
• c.1153+9A>G Single submitter developmental and epileptic encephalopathy 94
• c.1154-3del Single submitter developmental and epileptic encephalopathy 94
• c.1198+11A>C Single submitter developmental and epileptic encephalopathy 94
• c.1198+12A>G Single submitter developmental and epileptic encephalopathy 94
• c.1198+18T>C Single submitter developmental and epileptic encephalopathy 94
• c.1198+20T>C Single submitter developmental and epileptic encephalopathy 94
• c.1199-11A>G Single submitter developmental and epileptic encephalopathy 94
• c.1199-20A>T Single submitter developmental and epileptic encephalopathy 94
• c.1199-8T>C Single submitter developmental and epileptic encephalopathy 94
• c.1199-9A>G Single submitter developmental and epileptic encephalopathy 94
• c.1199-9A>T Single submitter developmental and epileptic encephalopathy 94
• c.1377+12G>T Single submitter developmental and epileptic encephalopathy 94
• c.1377+13T>C Single submitter developmental and epileptic encephalopathy 94
• c.1377+16G>T Single submitter developmental and epileptic encephalopathy 94
• c.1377+257TTTTA[5] Single submitter
• c.1378-14C>T Single submitter developmental and epileptic encephalopathy 94
• c.1378-15G>A Single submitter developmental and epileptic encephalopathy 94
• c.1378-15G>C Single submitter developmental and epileptic encephalopathy 94
• c.1502+18A>G Single submitter developmental and epileptic encephalopathy 94
• c.1502+19G>T Single submitter developmental and epileptic encephalopathy 94
• c.1503-10C>T Single submitter developmental and epileptic encephalopathy 94
• c.1503-20T>C Single submitter developmental and epileptic encephalopathy 94
• c.1503-6C>T Single submitter developmental and epileptic encephalopathy 94
• c.1719+12A>G Single submitter developmental and epileptic encephalopathy 94
• c.1719+16G>C Single submitter
• c.1719+18G>T Single submitter developmental and epileptic encephalopathy 94
• c.1720-15del Single submitter developmental and epileptic encephalopathy 94
• c.1720-17A>C Single submitter developmental and epileptic encephalopathy 94
• c.1720-17A>G Single submitter developmental and epileptic encephalopathy 94
• c.1720-7C>T Single submitter developmental and epileptic encephalopathy 94
• c.1720-8T>C Single submitter developmental and epileptic encephalopathy 94
• c.1809+13T>C Single submitter
• c.1809+15T>A Single submitter developmental and epileptic encephalopathy 94
• c.1809+19A>G Single submitter developmental and epileptic encephalopathy 94
• c.1809+3G>A Single submitter developmental and epileptic encephalopathy 94
• c.1809+7A>G Single submitter developmental and epileptic encephalopathy 94
• c.1809+8A>C Single submitter developmental and epileptic encephalopathy 94
• c.1810-11T>C Single submitter developmental and epileptic encephalopathy 94
• c.1810-158A>G Single submitter
• c.1810-20C>G Single submitter developmental and epileptic encephalopathy 94
• c.1810-224G>A Single submitter
• c.2000+139G>A Single submitter
• c.2000+13C>T Single submitter developmental and epileptic encephalopathy 94
• c.2000+15G>C Single submitter developmental and epileptic encephalopathy 94
• c.2000+20T>C Single submitter developmental and epileptic encephalopathy 94
• c.2000+9C>T Single submitter developmental and epileptic encephalopathy 94
• c.2001-164T>A Single submitter
• c.2001-17T>C Single submitter developmental and epileptic encephalopathy 94
• c.2001-20C>G Single submitter developmental and epileptic encephalopathy 94
• c.2001-5C>G Single submitter developmental and epileptic encephalopathy 94
• c.2189+15G>C Single submitter developmental and epileptic encephalopathy 94
• c.2189+16G>A Single submitter developmental and epileptic encephalopathy 94
• c.2189+19T>C Single submitter developmental and epileptic encephalopathy 94
• c.2189+21G>A Single submitter
• c.2189+21G>C Single submitter
• c.2189+8_2189+19del Single submitter developmental and epileptic encephalopathy 94
• c.2189+8C>G Single submitter developmental and epileptic encephalopathy 94
• c.2190-123T>A Single submitter
• c.2190-197T>A Single submitter
• c.2190-43G>T Single submitter
• c.2352+10del Single submitter developmental and epileptic encephalopathy 94
• c.2352+15A>G Single submitter developmental and epileptic encephalopathy 94
• c.2352+7_2352+9del Single submitter developmental and epileptic encephalopathy 94
• c.2353-15C>T Single submitter developmental and epileptic encephalopathy 94
• c.2353-18T>C Single submitter developmental and epileptic encephalopathy 94
• c.2505+16T>A Single submitter developmental and epileptic encephalopathy 94
• c.2505+20T>C Single submitter developmental and epileptic encephalopathy 94
• c.2505+9A>G Single submitter developmental and epileptic encephalopathy 94
• c.2506-13T>C Single submitter developmental and epileptic encephalopathy 94
• c.2506-14G>T Single submitter developmental and epileptic encephalopathy 94
• c.2577+11_2577+14del Single submitter developmental and epileptic encephalopathy 94
• c.2577+12A>C Single submitter developmental and epileptic encephalopathy 94
• c.2577+15_2577+20del Single submitter
• c.2577+15G>A Single submitter developmental and epileptic encephalopathy 94
• c.2577+20G>C Single submitter developmental and epileptic encephalopathy 94
• c.2577+7T>G Single submitter developmental and epileptic encephalopathy 94
• c.2577+8A>G Single submitter developmental and epileptic encephalopathy 94
• c.2577+8A>T Single submitter developmental and epileptic encephalopathy 94
• c.2577+9T>C Single submitter developmental and epileptic encephalopathy 94
• c.2578-18A>G Single submitter developmental and epileptic encephalopathy 94
• c.2578-279A>G Single submitter
• c.2727+16C>T Single submitter developmental and epileptic encephalopathy 94
• c.2727+20T>A Single submitter developmental and epileptic encephalopathy 94
• c.2727+7A>G Single submitter developmental and epileptic encephalopathy 94
• c.2727+9G>A Single submitter developmental and epileptic encephalopathy 94
• c.2728-12C>G Single submitter developmental and epileptic encephalopathy 94
• c.2728-12del Single submitter developmental and epileptic encephalopathy 94
• c.2728-13C>A Single submitter developmental and epileptic encephalopathy 94
• c.2728-20A>T Single submitter developmental and epileptic encephalopathy 94
• c.2728-55T>C Single submitter
• c.2728-8T>C Single submitter developmental and epileptic encephalopathy 94
• c.2876+10A>G Single submitter developmental and epileptic encephalopathy 94
• c.2876+15G>A Single submitter developmental and epileptic encephalopathy 94
• c.2876+17T>C Single submitter developmental and epileptic encephalopathy 94
• c.2876+7G>T Single submitter developmental and epileptic encephalopathy 94
• c.2877-15A>T Single submitter developmental and epileptic encephalopathy 94
• c.2877-4A>G Single submitter developmental and epileptic encephalopathy 94
• c.2877-5C>T Single submitter developmental and epileptic encephalopathy 94
• c.294+19A>G Single submitter developmental and epileptic encephalopathy 94
• c.294+20G>A Single submitter developmental and epileptic encephalopathy 94
• c.294+7A>G Single submitter developmental and epileptic encephalopathy 94
• c.295-12_295-11del Single submitter developmental and epileptic encephalopathy 94
• c.295-154A>T Single submitter
• c.295-18G>C Single submitter developmental and epileptic encephalopathy 94
• c.295-18G>T Single submitter developmental and epileptic encephalopathy 94
• c.2973+11A>G Single submitter
• c.2973+18_2973+23del Single submitter developmental and epileptic encephalopathy 94
• c.2973+8A>T Single submitter developmental and epileptic encephalopathy 94
• c.2973+9C>T Single submitter developmental and epileptic encephalopathy 94
• c.2974-10G>A Single submitter developmental and epileptic encephalopathy 94
• c.2974-4T>C Single submitter developmental and epileptic encephalopathy 94
• c.3066+19G>A Single submitter developmental and epileptic encephalopathy 94
• c.3066+20A>G Single submitter developmental and epileptic encephalopathy 94
• c.3066+8G>A Single submitter developmental and epileptic encephalopathy 94
• c.3067-10C>G Single submitter developmental and epileptic encephalopathy 94
• c.3067-16G>A Single submitter developmental and epileptic encephalopathy 94
• c.3237+14A>G Single submitter developmental and epileptic encephalopathy 94
• c.3237+19A>G Single submitter developmental and epileptic encephalopathy 94
• c.3237+20G>A Single submitter developmental and epileptic encephalopathy 94
• c.3238-11A>C Single submitter developmental and epileptic encephalopathy 94
• c.3238-12G>A Single submitter developmental and epileptic encephalopathy 94
• c.3238-13C>G Single submitter developmental and epileptic encephalopathy 94
• c.3238-13C>T Single submitter developmental and epileptic encephalopathy 94
• c.3238-15C>T Single submitter developmental and epileptic encephalopathy 94
• c.3238-16C>T Single submitter developmental and epileptic encephalopathy 94
• c.3238-18T>A Single submitter developmental and epileptic encephalopathy 94
• c.3238-5C>G Single submitter developmental and epileptic encephalopathy 94
• c.3238-5C>T Single submitter developmental and epileptic encephalopathy 94
• c.3413+114A>C Single submitter
• c.3413+11G>C Single submitter developmental and epileptic encephalopathy 94
• c.3413+13T>A Single submitter developmental and epileptic encephalopathy 94
• c.3413+16G>T Single submitter developmental and epileptic encephalopathy 94
• c.3413+47T>C Single submitter
• c.3413+7G>T Single submitter developmental and epileptic encephalopathy 94
• c.3414-11C>T Single submitter developmental and epileptic encephalopathy 94
• c.3414-19T>C Single submitter developmental and epileptic encephalopathy 94
• c.3414-20T>C Single submitter developmental and epileptic encephalopathy 94
• c.3414-5_3414-3del Single submitter developmental and epileptic encephalopathy 94
• c.3414-5C>T Single submitter developmental and epileptic encephalopathy 94
• c.3414-8A>G Single submitter developmental and epileptic encephalopathy 94
• c.3455+11T>C Single submitter developmental and epileptic encephalopathy 94
• c.3455+12G>A Single submitter developmental and epileptic encephalopathy 94
• c.3455+191_3455+192del Single submitter
• c.3455+193_3455+194insCTCCCT Single submitter
• c.3455+20C>A Single submitter developmental and epileptic encephalopathy 94
• c.3455+9A>G Single submitter developmental and epileptic encephalopathy 94
• c.3456-13_3456-10del Single submitter developmental and epileptic encephalopathy 94
• c.3456-15T>C Single submitter developmental and epileptic encephalopathy 94
• c.3456-16A>G Single submitter developmental and epileptic encephalopathy 94
• c.3456-19C>G Single submitter developmental and epileptic encephalopathy 94
• c.3456-20C>G Single submitter
• c.3456-299C>T Single submitter

Uncertain significance 914

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

• c.2974-3T>C Multiple submitters developmental and epileptic encephalopathy 94
• c.4137+5G>A Multiple submitters developmental and epileptic encephalopathy 94
• c.4592+5C>T Multiple submitters developmental and epileptic encephalopathy 94
• c.5154-3C>A Multiple submitters developmental and epileptic encephalopathy 94
• c.5154-5T>G Multiple submitters Inborn genetic diseases
• c.62+3A>G Multiple submitters developmental and epileptic encephalopathy 94
• p.Ala1080Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala1514Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ala276Thr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ala901Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1000Gln Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1038His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1124Trp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1158Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg121Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1251Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1268His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1322Gly Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1503Trp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1644Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1679Gln Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1748Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1788Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg1826Trp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg223Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg223Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg223His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg586Lys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg836Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Arg914Cys Multiple submitters Inborn genetic diseases ⚠
• p.Asn113Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asn1371Asp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asn1494Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asn1600Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asn4Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn590Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asp1084Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp206His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asp209His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asp291Asn Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asp856Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Asp978Tyr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln1523Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln1615His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln1734His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln1815Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln1815Lys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln221His Multiple submitters Inborn genetic diseases ⚠
• p.Gln36Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln780Pro Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gln991= Multiple submitters Inborn genetic diseases
• p.Glu11del Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu1412Asp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Glu1412Gly Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Glu339Lys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Glu412Thr Multiple submitters developmental and epileptic encephalopathy 94
• p.Glu669Gln Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Glu69Asp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Glu952Asp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Glu977Gly Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gly1214Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gly1277Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gly1382Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gly1413Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gly1651del Multiple submitters developmental and epileptic encephalopathy 94
• p.Gly1676Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Gly294Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1233Tyr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1525Asp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1549Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1596Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1668Tyr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1673Tyr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1709Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1712Gln Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1781Asp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.His1805Arg Multiple submitters Inborn genetic diseases ⚠
• p.His528Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ile286Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ile538Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ile565Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Leu1162Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Leu1176Met Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Leu1292Phe Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Leu1483Pro Multiple submitters Inborn genetic diseases ⚠
• p.Lys1234Asn Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Lys1421Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Lys1769Ile Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Lys192Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Lys203Ile Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Lys331Glu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Lys654Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Met1694Val Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Phe1131Tyr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Phe1765Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Phe296Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Pro1288Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1298Gln Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1298Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1366Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1427Ala Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1620Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1656Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1691Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1691Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1779Ala Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro1819Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro665Gln Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro665Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Pro833Ser Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser1180Gly Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser1197Gly Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser1435Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser14Ala Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser20Trp Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser293Asn Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser315Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ser57Thr Multiple submitters ⚠
• p.Ser582Tyr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser62Asn Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Ser64Thr Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Thr1301Ile Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Thr185Ala Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Thr604Ala Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Thr604Asn Multiple submitters Inborn genetic diseases ⚠
• p.Thr949Met Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Trp1657Arg Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Tyr1278Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Tyr1520Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Tyr1520Phe Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Tyr1624Cys Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Tyr577His Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val1009Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val1163Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val1352Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val1479Met Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val230Ile Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val283Leu Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• p.Val883Ile Multiple submitters developmental and epileptic encephalopathy 94 ⚠
• c.1052+3A>G Single submitter
• c.1052+4T>C Single submitter developmental and epileptic encephalopathy 94
• c.1052+5A>G Single submitter developmental and epileptic encephalopathy 94
• c.1199-8T>A Single submitter
• c.1377+4T>C Single submitter developmental and epileptic encephalopathy 94
• c.1377+5G>A Single submitter developmental and epileptic encephalopathy 94
• c.1377+6G>A Single submitter developmental and epileptic encephalopathy 94
• c.1502+4G>A Single submitter developmental and epileptic encephalopathy 94
• c.2000+4A>G Single submitter developmental and epileptic encephalopathy 94
• c.2001-4del Single submitter developmental and epileptic encephalopathy 94
• c.2189+4A>T Single submitter
• c.2190-15_2190-7del Single submitter developmental and epileptic encephalopathy 94
• c.2352+3A>G Single submitter
• c.2352+4G>C Single submitter developmental and epileptic encephalopathy 94
• c.2353-15_2353-14insACA Single submitter developmental and epileptic encephalopathy 94
• c.2353-16T>C Single submitter developmental and epileptic encephalopathy 94
• c.2353-3C>T Single submitter developmental and epileptic encephalopathy 94
• c.2505+3A>G Single submitter developmental and epileptic encephalopathy 94
• c.2505+6G>A Single submitter developmental and epileptic encephalopathy 94
• c.2577+4del Single submitter developmental and epileptic encephalopathy 94
• c.2577+5A>G Single submitter developmental and epileptic encephalopathy 94
• c.2727+3C>G Single submitter developmental and epileptic encephalopathy 94
• c.2727+5G>T Single submitter developmental and epileptic encephalopathy 94
• c.2871_2876+15dup Single submitter developmental and epileptic encephalopathy 94
• c.2973+6T>C Single submitter developmental and epileptic encephalopathy 94
• c.3237+5T>G Single submitter developmental and epileptic encephalopathy 94
• c.3238-3C>T Single submitter developmental and epileptic encephalopathy 94
• c.3455+4_3455+5del Single submitter developmental and epileptic encephalopathy 94
• c.3456-3C>T Single submitter developmental and epileptic encephalopathy 94
• c.3595+6C>T Single submitter developmental and epileptic encephalopathy 94
• c.3696_3886-11del Single submitter developmental and epileptic encephalopathy 94
• c.3734+3G>T Single submitter developmental and epileptic encephalopathy 94
• c.381+3A>G Single submitter developmental and epileptic encephalopathy 94
• c.3885+4A>G Single submitter developmental and epileptic encephalopathy 94
• c.3886-18C>T Single submitter developmental and epileptic encephalopathy 94
• c.4008+5G>A Single submitter developmental and epileptic encephalopathy 94
• c.4009-13_4009-4del Single submitter
• c.4009-3C>T Single submitter developmental and epileptic encephalopathy 94
• c.4137+11G>C Single submitter developmental and epileptic encephalopathy 94
• c.4278+5T>A Single submitter developmental and epileptic encephalopathy 94
• c.4279-4A>G Single submitter developmental and epileptic encephalopathy 94
• c.4413+3A>G Single submitter developmental and epileptic encephalopathy 94
• c.443+4A>C Single submitter
• c.443+6T>A Single submitter developmental and epileptic encephalopathy 94
• c.444-4del Single submitter
• c.444-5C>A Single submitter Inborn genetic diseases
• c.4592+3A>G Single submitter developmental and epileptic encephalopathy 94
• c.4592+4A>G Single submitter developmental and epileptic encephalopathy 94
• c.4906+2T>G Single submitter
• c.4907-5T>A Single submitter
• c.5153+3A>T Single submitter developmental and epileptic encephalopathy 94
• c.551+3G>A Single submitter developmental and epileptic encephalopathy 94
• c.551+7_551+34dup Single submitter developmental and epileptic encephalopathy 94
• c.552-5T>C Single submitter developmental and epileptic encephalopathy 94
• c.62+196T>G Single submitter developmental and epileptic encephalopathy 94
• c.62+1G>A Single submitter
• c.63-5A>G Single submitter developmental and epileptic encephalopathy 94
• c.63-9_63-8insTG Single submitter
• c.692+5G>A Single submitter developmental and epileptic encephalopathy 94
• c.692+5G>C Single submitter developmental and epileptic encephalopathy 94
• c.692+6T>C Single submitter developmental and epileptic encephalopathy 94
• p.Ala1095Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1134Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1168Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1196Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1196Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1254Asp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1314Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1330Ser Single submitter ⚠
• p.Ala1337Asp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1337Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1519Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1555Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1583Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1610Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1750Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1750Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1750Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala1783Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala276Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala279Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala285Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala370Pro Single submitter ⚠
• p.Ala406Val Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala431Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala556Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala71_Ser75del Single submitter developmental and epileptic encephalopathy 94
• p.Ala849Gly Single submitter ⚠
• p.Ala901Thr Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Ala929Pro Single submitter ⚠
• p.Ala976Val Single submitter ⚠
• p.Arg1072Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1072Leu Single submitter ⚠
• p.Arg1093Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1119Cys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1124Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1137Gln Single submitter ⚠
• p.Arg1138Thr Single submitter Inborn genetic diseases ⚠
• p.Arg114Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1158His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1158Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1172His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg121Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1251His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1313Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1342Leu Single submitter developmental and epileptic encephalopathy 94
• p.Arg1342Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1345Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg143Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1440Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1440Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1440Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1512Gln Single submitter ⚠
• p.Arg1546Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1588Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1621_Pro1627del Single submitter
• p.Arg1637Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1637Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1644Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1678Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1685Cys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1685fs Single submitter
• p.Arg1685His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1707Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1707Ter Single submitter developmental and epileptic encephalopathy 94
• p.Arg1710Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1710Gly Single submitter ⚠
• p.Arg1718= Single submitter developmental and epileptic encephalopathy 94
• p.Arg1718Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1725Trp Single submitter ⚠
• p.Arg1743Ter Single submitter developmental and epileptic encephalopathy 94
• p.Arg1748His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1763Cys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1763His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1763Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg178Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1806Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg1826Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg190His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg225Ile Single submitter ⚠
• p.Arg225Lys Single submitter Inborn genetic diseases ⚠
• p.Arg270Gly Single submitter ⚠
• p.Arg270Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg403Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg403Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg456Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg466Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg682Ile Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg776Gly Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg776Ser Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg788Lys Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg804Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg809Leu Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg836His Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg903Ile Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg914His Single submitter Inborn genetic diseases ⚠
• p.Arg928Gln Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg92Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg942Pro Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg948Trp Single submitter developmental and epileptic encephalopathy 94 ⚠
• p.Arg957Gly Single submitter developmental and epileptic encephalopathy 94 ⚠