SCN2A — 2958 ClinVar variants

Pathogenic 328

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

• p.Ala1773Thr Expert panel complex neurodevelopmental disorder
• p.Arg853Gln Expert panel complex neurodevelopmental disorder
• p.Leu1611Pro Expert panel complex neurodevelopmental disorder
• p.Val1627Met Expert panel complex neurodevelopmental disorder
• c.2388+1G>A Multiple submitters intellectual disability
• c.386+2T>C Multiple submitters Inborn genetic diseases
• c.605+1G>A Multiple submitters seizures, benign familial infantile, 3
• p.Ala1333Thr Multiple submitters seizures, benign familial infantile, 3
• p.Ala215Thr Multiple submitters seizures, benign familial infantile, 3
• p.Ala240Ser Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala263Val Multiple submitters seizures, benign familial infantile, 3
• p.Arg102Gln Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg102Ter Multiple submitters episodic ataxia, type 9
• p.Arg1235Ter Multiple submitters Inborn genetic diseases
• p.Arg1319Gln Multiple submitters SCN2A-related disorder ⚠
• p.Arg1319Leu Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg1515Ter Multiple submitters seizures, benign familial infantile, 3
• p.Arg1626Gln Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg1629Leu Multiple submitters SCN2A-related disorder
• p.Arg1882Gly Multiple submitters SCN2A-related disorder
• p.Arg275Ter Multiple submitters Developmental disorder
• p.Arg583Ter Multiple submitters seizures, benign familial infantile, 3
• p.Arg607Ter Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg937Cys Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asn1475Lys Multiple submitters developmental and epileptic encephalopathy, 11
• p.Cys959Ter Multiple submitters seizures, benign familial infantile, 3
• p.Gln268Ter Multiple submitters Inborn genetic diseases
• p.Gln383Glu Multiple submitters seizures, benign familial infantile, 3
• p.Gln431Ter Multiple submitters complex neurodevelopmental disorder
• p.Gln510Ter Multiple submitters Inborn genetic diseases
• p.Gln786Ter Multiple submitters Inborn genetic diseases
• p.Gly1423Ter Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ile1346Val Multiple submitters seizures, benign familial infantile, 3
• p.Leu1563Val Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu577fs Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu611fs Multiple submitters Inborn genetic diseases
• p.Met1323Val Multiple submitters malignant migrating partial seizures of infancy
• p.Met1490Val Multiple submitters developmental and epileptic encephalopathy, 11 ⚠
• p.Met1501Val Multiple submitters epilepsy
• p.Met1545Val Multiple submitters SCN2A-related disorder
• p.Ser484fs Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ser661fs Multiple submitters developmental and epileptic encephalopathy, 11
• p.Trp1194fs Multiple submitters developmental and epileptic encephalopathy, 11
• p.Trp1424Ter Multiple submitters seizures, benign familial infantile, 3
• p.Trp281Ter Multiple submitters developmental and epileptic encephalopathy, 11
• p.Val261Met Multiple submitters SCN2A-related disorder
• p.Val424Ala Multiple submitters seizures, benign familial infantile, 3
• p.Val424Met Multiple submitters developmental and epileptic encephalopathy, 11
• c.1177-1G>A Single submitter SCN2A-related neurodevelopmental disorder
• c.1177-2A>C Single submitter Epileptic encephalopathy, infantile or early childhood
• c.2017-2A>G Single submitter
• c.2150-2A>G Single submitter developmental and epileptic encephalopathy, 11
• c.2388+1dup Single submitter Inborn genetic diseases
• c.2562+1G>T Single submitter
• c.2562+2T>C Single submitter developmental and epileptic encephalopathy, 11
• c.2563-1G>T Single submitter SCN2A-related disorder
• c.3399+1del Single submitter seizures, benign familial infantile, 3
• c.3521-1G>T Single submitter
• c.3850-2A>G Single submitter developmental and epileptic encephalopathy, 11
• c.387-2A>G Single submitter
• c.3973-1G>A Single submitter
• c.4308+1G>A Single submitter complex neurodevelopmental disorder
• c.4446+1A>G Single submitter
• c.4551+1G>A Single submitter developmental and epileptic encephalopathy, 11
• c.476+1G>A Single submitter
• c.4822+1G>T Single submitter developmental and epileptic encephalopathy, 11
• c.605+1G>C Single submitter seizures, benign familial infantile, 3
• c.605+1G>T Single submitter complex neurodevelopmental disorder
• c.962_970+1del Single submitter seizures, benign familial infantile, 3
• p.Ala1329Ser Single submitter
• p.Ala1333Ser Single submitter seizures, benign familial infantile, 3
• p.Ala1500Thr Single submitter developmental and epileptic encephalopathy, 11
• p.Ala1643Glu Single submitter seizures, benign familial infantile, 3
• p.Ala240_Leu241insTer Single submitter
• p.Ala240fs Single submitter seizures, benign familial infantile, 3
• p.Ala263Thr Single submitter seizures, benign familial infantile, 3
• p.Ala30fs Single submitter Inborn genetic diseases
• p.Ala344fs Single submitter seizures, benign familial infantile, 3
• p.Ala631fs Single submitter Inborn genetic diseases
• p.Ala647fs Single submitter
• p.Ala861fs Single submitter
• p.Ala880fs Single submitter developmental and epileptic encephalopathy, 11
• p.Arg1306fs Single submitter seizures, benign familial infantile, 3
• p.Arg1312Ser Single submitter developmental and epileptic encephalopathy
• p.Arg1315Lys Single submitter
• p.Arg1515Gln Single submitter developmental and epileptic encephalopathy, 11
• p.Arg1629Gly Single submitter seizures, benign familial infantile, 3
• p.Arg1629Pro Single submitter seizures, benign familial infantile, 3
• p.Arg1638Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Arg177fs Single submitter developmental and epileptic encephalopathy, 11
• p.Arg1882Leu Single submitter ⚠
• p.Arg223Leu Single submitter
• p.Arg395His Single submitter seizures, benign familial infantile, 3
• p.Arg41fs Single submitter developmental and epileptic encephalopathy, 11
• p.Arg534Ter Single submitter seizures, benign familial infantile, 3
• p.Arg563fs Single submitter developmental and epileptic encephalopathy, 11
• p.Arg607fs Single submitter seizures, benign familial infantile, 3
• p.Arg722fs Single submitter seizures, benign familial infantile, 3
• p.Arg853Pro Single submitter developmental and epileptic encephalopathy, 11
• p.Asn1066fs Single submitter
• p.Asn1381fs Single submitter developmental and epileptic encephalopathy, 11
• p.Asn142fs Single submitter
• p.Asn1887Thr Single submitter developmental and epileptic encephalopathy, 11
• p.Asn212Asp Single submitter seizures, benign familial infantile, 3
• p.Asn340fs Single submitter seizures, benign familial infantile, 3
• p.Asn503fs Single submitter developmental and epileptic encephalopathy, 11
• p.Asn976Lys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Asn990Lys Single submitter developmental and epileptic encephalopathy, 11
• p.Asp1070fs Single submitter seizures, benign familial infantile, 3
• p.Asp1246fs Single submitter developmental and epileptic encephalopathy, 11
• p.Asp284Gly Single submitter seizures, benign familial infantile, 3 ⚠
• p.Asp343Gly Single submitter developmental and epileptic encephalopathy, 11
• p.Asp343His Single submitter complex neurodevelopmental disorder
• p.Asp343Tyr Single submitter
• p.Asp343Val Single submitter
• p.Asp827Gly Single submitter seizures, benign familial infantile, 3
• p.Cys1366fs Single submitter Inborn genetic diseases
• p.Cys1746Tyr Single submitter developmental and epileptic encephalopathy
• p.Cys912fs Single submitter developmental and epileptic encephalopathy, 11
• p.Gln1267fs Single submitter intellectual disability
• p.Gln1478Glu Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Gln1510Arg Single submitter developmental and epileptic encephalopathy, 11
• p.Gln1531Ter Single submitter complex neurodevelopmental disorder
• p.Gln1557Ter Single submitter SCN2A-related disorder
• p.Gln1709fs Single submitter developmental and epileptic encephalopathy, 11
• p.Gln1811Glu Single submitter seizures, benign familial infantile, 3
• p.Gln1811Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Gln346Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Gln383Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Gln3Ter Single submitter seizures, benign familial infantile, 3
• p.Gln448Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Gln457Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Gln627Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Gln723Ter Single submitter
• p.Glu1023fs Single submitter Inborn genetic diseases
• p.Glu1023Ter Single submitter seizures, benign familial infantile, 3
• p.Glu1125fs Single submitter seizures, benign familial infantile, 3
• p.Glu1298Ter Single submitter
• p.Glu1493del Single submitter
• p.Glu1577Gly Single submitter
• p.Glu169fs Single submitter seizures, benign familial infantile, 3
• p.Glu1803Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1880Lys Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Glu289fs Single submitter seizures, benign familial infantile, 3
• p.Glu430Ala Single submitter complex neurodevelopmental disorder
• p.Glu438Gln Single submitter developmental and epileptic encephalopathy, 11
• p.Glu440Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Glu500fs Single submitter seizures, benign familial infantile, 3
• p.Glu518Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Glu785fs Single submitter
• p.Glu942fs Single submitter
• p.Glu952Ter Single submitter seizures, benign familial infantile, 3
• p.Gly1013fs Single submitter developmental and epileptic encephalopathy, 11
• p.Gly1071Ter Single submitter seizures, benign familial infantile, 3
• p.Gly1484fs Single submitter developmental and epileptic encephalopathy, 11
• p.Gly1522fs Single submitter
• p.Gly1576Arg Single submitter developmental and epileptic encephalopathy, 11
• p.Gly1576fs Single submitter complex neurodevelopmental disorder
• p.Gly1593Arg Single submitter complex neurodevelopmental disorder
• p.Gly1634Val Single submitter seizures, benign familial infantile, 3
• p.Gly1715fs Single submitter seizures, benign familial infantile, 3
• p.Gly211Asp Single submitter developmental and epileptic encephalopathy, 11
• p.Gly211Ser Single submitter developmental and epileptic encephalopathy, 11
• p.Gly882Glu Single submitter Inborn genetic diseases
• p.Gly904fs Single submitter seizures, benign familial infantile, 3
• p.Ile1078fs Single submitter Inborn genetic diseases
• p.Ile1184fs Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1281Met Single submitter seizures, benign familial infantile, 3
• p.Ile1458fs Single submitter
• p.Ile1469fs Single submitter Inborn genetic diseases
• p.Ile1571Thr Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Ile1596Ser Single submitter seizures, benign familial infantile, 3
• p.Ile1615fs Single submitter seizures, benign familial infantile, 3
• p.Ile1673Thr Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1772fs Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1775Met Single submitter developmental and epileptic encephalopathy, 11
• p.Ile237fs Single submitter
• p.Ile825fs Single submitter seizures, benign familial infantile, 3
• p.Ile874fs Single submitter complex neurodevelopmental disorder
• p.Leu1305fs Single submitter seizures, benign familial infantile, 3
• p.Leu1330Phe Single submitter developmental and epileptic encephalopathy, 11
• p.Leu134fs Single submitter seizures, benign familial infantile, 3
• p.Leu1439Ter Single submitter seizures, benign familial infantile, 3
• p.Leu1573Pro Single submitter
• p.Leu1582Pro Single submitter seizures, benign familial infantile, 3
• p.Leu1585fs Single submitter Inborn genetic diseases
• p.Leu1624Pro Single submitter seizures, benign familial infantile, 3
• p.Leu1650Phe Single submitter
• p.Leu1665Val Single submitter developmental and epileptic encephalopathy, 11
• p.Leu329fs Single submitter developmental and epileptic encephalopathy, 11
• p.Leu375fs Single submitter
• p.Leu392fs Single submitter developmental and epileptic encephalopathy, 11
• p.Leu62fs Single submitter non-syndromic intellectual disability
• p.Leu656fs Single submitter developmental and epileptic encephalopathy, 11
• p.Leu694Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Leu835Ter Single submitter Inborn genetic diseases
• p.Leu846Phe Single submitter developmental and epileptic encephalopathy, 11
• p.Leu972Val Single submitter
• p.Leu979Ser Single submitter seizures, benign familial infantile, 3
• p.Leu981fs Single submitter
• p.Lys1134fs Single submitter
• p.Lys1422Glu Single submitter seizures, benign familial infantile, 3 ⚠
• p.Lys1481fs Single submitter developmental and epileptic encephalopathy, 11
• p.Lys173Ter Single submitter
• p.Lys454Ter Single submitter seizures, benign familial infantile, 3
• p.Lys455Ter Single submitter seizures, benign familial infantile, 3
• p.Lys496Ter Single submitter seizures, benign familial infantile, 3
• p.Lys507fs Single submitter
• p.Lys507Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Lys511fs Single submitter developmental and epileptic encephalopathy, 11
• p.Lys550fs Single submitter
• p.Lys60fs Single submitter developmental and epileptic encephalopathy, 11
• p.Lys747_Val748insTer Single submitter seizures, benign familial infantile, 3
• p.Lys905Asn Single submitter
• p.Met136Arg Single submitter developmental and epileptic encephalopathy, 11
• p.Met1449fs Single submitter developmental and epileptic encephalopathy, 11
• p.Met1770Val Single submitter SCN2A-related disorder
• p.Met1Ile Single submitter developmental and epileptic encephalopathy, 11
• p.Met958fs Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1016fs Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1453fs Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1459Leu Single submitter seizures, benign familial infantile, 3 ⚠
• p.Phe1462fs Single submitter seizures, benign familial infantile, 3
• p.Phe1463fs Single submitter Inborn genetic diseases
• p.Phe1525fs Single submitter seizures, benign familial infantile, 3
• p.Phe1574Leu Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1590Ser Single submitter seizures, benign familial infantile, 3
• p.Phe1682fs Single submitter intellectual disability
• p.Phe257_Cys258insTer Single submitter seizures, benign familial infantile, 3
• p.Phe295fs Single submitter developmental and epileptic encephalopathy, 11
• p.Phe374Leu Single submitter seizures, benign familial infantile, 3
• p.Phe404fs Single submitter SCN2A-related disorder
• p.Phe414Leu Single submitter seizures, benign familial infantile, 3
• p.Phe601fs Single submitter autism spectrum disorder
• p.Phe928Cys Single submitter developmental and epileptic encephalopathy, 11
• p.Pro1041Leu Single submitter ⚠
• p.Pro1512fs Single submitter seizures, benign familial infantile, 3
• p.Pro151fs Single submitter intellectual disability
• p.Pro1622Arg Single submitter
• p.Pro1622Ser Single submitter developmental and epileptic encephalopathy, 11
• p.Pro1658Ser Single submitter developmental and epileptic encephalopathy, 11
• p.Ser1076Ter Single submitter Inborn genetic diseases
• p.Ser1131fs Single submitter complex neurodevelopmental disorder
• p.Ser1506Ter Single submitter seizures, benign familial infantile, 3
• p.Ser1656Phe Single submitter Inborn genetic diseases
• p.Ser1758Arg Single submitter seizures, benign familial infantile, 3
• p.Ser486fs Single submitter complex neurodevelopmental disorder
• p.Ser4Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Ser851Ter Single submitter seizures, benign familial infantile, 3
• p.Ser863Tyr Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Thr1464fs Single submitter seizures, benign familial infantile, 3
• p.Thr1623Asn Single submitter developmental and epileptic encephalopathy, 11
• p.Thr1711Arg Single submitter seizures, benign familial infantile, 3
• p.Thr400fs Single submitter seizures, benign familial infantile, 3
• p.Thr773Ala Single submitter developmental and epileptic encephalopathy, 11
• p.Thr957fs Single submitter developmental and epileptic encephalopathy, 11
• p.Trp1194Ter Single submitter seizures, benign familial infantile, 3
• p.Trp1261Ter Single submitter seizures, benign familial infantile, 3
• p.Trp1398Ter Single submitter
• p.Trp1424fs Single submitter developmental and epileptic encephalopathy, 11
• p.Trp1802Ter Single submitter
• p.Trp191Cys Single submitter seizures, benign familial infantile, 3
• p.Trp193Ter Single submitter seizures, benign familial infantile, 3
• p.Trp729fs Single submitter SCN2A-related disorder
• p.Trp864Ter Single submitter seizures, benign familial infantile, 3
• p.Trp948Ter Single submitter
• p.Tyr1085fs Single submitter Inborn genetic diseases
• p.Tyr110Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr1202Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr1450Ter Single submitter seizures, benign familial infantile, 3
• p.Tyr1497_Tyr1498insTer Single submitter complex neurodevelopmental disorder
• p.Tyr1498Cys Single submitter
• p.Tyr1498del Single submitter complex neurodevelopmental disorder
• p.Tyr1564fs Single submitter
• p.Tyr362Ter Single submitter seizures, benign familial infantile, 3
• p.Tyr730Ter Single submitter seizures, benign familial infantile, 3
• p.Tyr781Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Val1082fs Single submitter developmental and epileptic encephalopathy, 11
• p.Val1268fs Single submitter seizures, benign familial infantile, 3
• p.Val1325Ile Single submitter developmental and epileptic encephalopathy, 11
• p.Val1326Asp Single submitter
• p.Val1340Ile Single submitter
• p.Val1550fs Single submitter Inborn genetic diseases
• p.Val1757fs Single submitter seizures, benign familial infantile, 3
• p.Val261Leu Single submitter Seizure
• p.Val423Leu Single submitter seizures, benign familial infantile, 3 ⚠
• p.Val423Met Single submitter seizures, benign familial infantile, 3
• p.Val424Gly Single submitter seizures, benign familial infantile, 3
• c.(2388+1_2389-1 No assertion criteria Seizure
• c.4308+2T>C No assertion criteria complex neurodevelopmental disorder
• p.Ala1612Gly No assertion criteria benign familial infantile epilepsy ⚠
• p.Ala1652Pro No assertion criteria developmental and epileptic encephalopathy, 11
• p.Asn1339Asp No assertion criteria developmental and epileptic encephalopathy
• p.Asn418Ile No assertion criteria developmental and epileptic encephalopathy
• p.Cys728Arg No assertion criteria self-limited epilepsy with centrotemporal spikes
• p.Gln1478Lys No assertion criteria benign familial infantile epilepsy
• p.Gln510_Lys511del No assertion criteria generalized epilepsy with febrile seizures plus
• p.Glu1233Ter No assertion criteria intellectual disability, autosomal dominant
• p.Glu1880Asp No assertion criteria infantile spasms
• p.Glu430Lys No assertion criteria developmental and epileptic encephalopathy

Pathogenic/Likely pathogenic 62

• c.2920-1G>A Multiple submitters Autosomal dominant SCN2A-related disorders
• c.3520+1G>T Multiple submitters seizures, benign familial infantile, 3
• c.4446+9A>G Multiple submitters seizures, benign familial infantile, 3
• p.Ala1316Val Multiple submitters SCN2A-related disorder
• p.Ala1659Val Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala1773Val Multiple submitters SCN2A-related disorder
• p.Ala202Val Multiple submitters seizures, benign familial infantile, 3
• p.Ala240Val Multiple submitters epilepsy
• p.Ala880Thr Multiple submitters seizures, benign familial infantile, 3
• p.Ala880Val Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala896Val Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg1319Pro Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg1319Trp Multiple submitters seizures, benign familial infantile, 3
• p.Arg1435Ter Multiple submitters Seizure
• p.Arg1626Ter Multiple submitters seizures, benign familial infantile, 3
• p.Arg1629Cys Multiple submitters complex neurodevelopmental disorder
• p.Arg1629His Multiple submitters Inborn genetic diseases
• p.Arg1635Gln Multiple submitters Developmental disorder
• p.Arg1635Ter Multiple submitters seizures, benign familial infantile, 3
• p.Arg1638Pro Multiple submitters seizures, benign familial infantile, 3
• p.Arg1882Gln Multiple submitters seizures, benign familial infantile, 3 ⚠
• p.Arg1882Ter Multiple submitters SCN2A-related disorder
• p.Arg223Gln Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg379His Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg524Ter Multiple submitters seizures, benign familial infantile, 3
• p.Arg850Ter Multiple submitters episodic ataxia, type 9
• p.Arg856Gln Multiple submitters SCN2A-related disorder
• p.Arg856Ter Multiple submitters developmental and epileptic encephalopathy, 11
• p.Arg937His Multiple submitters episodic ataxia, type 9
• p.Asn876Ser Multiple submitters developmental and epileptic encephalopathy, 11
• p.Cys1275Arg Multiple submitters developmental and epileptic encephalopathy, 11
• p.Glu1111Ter Multiple submitters developmental and epileptic encephalopathy, 11
• p.Glu1211Lys Multiple submitters SCN2A-related disorder
• p.Glu430Gly Multiple submitters seizures, benign familial infantile, 3
• p.Glu438Lys Multiple submitters epilepsy
• p.Glu999Lys Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ile1473Thr Multiple submitters SCN2A-related disorder
• p.Ile1636Met Multiple submitters seizures, benign familial infantile, 3 ⚠
• p.Ile1640Phe Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu1342Pro Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu1650Pro Multiple submitters episodic ataxia, type 9
• p.Leu216Trp Multiple submitters seizures, benign familial infantile, 3
• p.Leu983Trp Multiple submitters seizures, benign familial infantile, 3
• p.Lys156Asn Multiple submitters developmental and epileptic encephalopathy, 11
• p.Met1338Thr Multiple submitters
• p.Met1354Thr Multiple submitters seizures, benign familial infantile, 3
• p.Met136Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met1501Thr Multiple submitters developmental and epileptic encephalopathy, 11
• p.Met1548Val Multiple submitters developmental and epileptic encephalopathy, 11
• p.Phe1661fs Multiple submitters Inborn genetic diseases
• p.Phe262Ser Multiple submitters developmental and epileptic encephalopathy, 11
• p.Pro360Ser Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ser987Ile Multiple submitters hereditary episodic ataxia
• p.Trp729Ter Multiple submitters seizures, benign familial infantile, 3
• p.Tyr1589Cys Multiple submitters seizures, benign familial infantile, 5
• p.Tyr428Cys Multiple submitters SCN2A-related disorder
• p.Val1408Ala Multiple submitters seizures, benign familial infantile, 3
• p.Val213Ala Multiple submitters seizures, benign familial infantile, 3
• p.Val251Ile Multiple submitters developmental and epileptic encephalopathy, 11
• p.Val887Leu Multiple submitters developmental and epileptic encephalopathy, 11
• p.Val892Ile Multiple submitters seizures, benign familial infantile, 3 ⚠
• p.Thr1464Ile No assertion criteria seizures, benign familial infantile, 3

Likely pathogenic 303

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

• p.Arg220Gly Expert panel complex neurodevelopmental disorder
• p.Gly899Asp Expert panel complex neurodevelopmental disorder
• p.Leu886Ser Expert panel complex neurodevelopmental disorder
• p.Lys1260Gln Expert panel complex neurodevelopmental disorder
• p.Lys1260Glu Expert panel complex neurodevelopmental disorder
• p.Lys156Gln Expert panel complex neurodevelopmental disorder ⚠
• p.Lys156Glu Expert panel complex neurodevelopmental disorder
• p.Met1879Thr Expert panel complex neurodevelopmental disorder
• p.Thr365Met Expert panel complex neurodevelopmental disorder
• p.Trp1594Cys Expert panel complex neurodevelopmental disorder
• c.1384-2A>G Multiple submitters seizures, benign familial infantile, 3
• p.Ala240Thr Multiple submitters seizures, benign familial infantile, 3
• p.Arg1324= Multiple submitters dystonia 12
• p.Arg1638His Multiple submitters
• p.Arg379Cys Multiple submitters developmental and epileptic encephalopathy, 11
• p.Gln1479Lys Multiple submitters developmental and epileptic encephalopathy, 11
• p.Gln1494Arg Multiple submitters seizures, benign familial infantile, 3
• p.Gly1322Arg Multiple submitters
• p.Gly1485Asp Multiple submitters developmental and epileptic encephalopathy, 11 ⚠
• p.Gly266Arg Multiple submitters Inborn genetic diseases
• p.Ile1636Thr Multiple submitters SCN2A-related disorder
• p.Leu210Gln Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu241Arg Multiple submitters seizures, benign familial infantile, 3
• p.Leu979Trp Multiple submitters Inborn genetic diseases
• p.Lys905Glu Multiple submitters seizures, benign familial infantile, 3
• p.Met1548Thr Multiple submitters seizures, benign familial infantile, 3
• p.Met1770Leu Multiple submitters developmental and epileptic encephalopathy, 11 ⚠
• p.Met1879Ile Multiple submitters developmental and epileptic encephalopathy, 11
• p.Phe1375Val Multiple submitters seizures, benign familial infantile, 3
• p.Phe1489Cys Multiple submitters developmental and epileptic encephalopathy, 11
• p.Phe207Ser Multiple submitters seizures, benign familial infantile, 3
• p.Ser834Asn Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr1212Pro Multiple submitters seizures, benign familial infantile, 3
• p.Trp1594Arg Multiple submitters
• p.Tyr428Phe Multiple submitters Autosomal dominant SCN2A-related disorders ⚠
• c.1034+1del Single submitter developmental and epileptic encephalopathy, 11
• c.1034+1G>A Single submitter
• c.1034+5G>A Single submitter developmental and epileptic encephalopathy, 11
• c.1384-1G>A Single submitter developmental and epileptic encephalopathy, 11
• c.1672-2A>G Single submitter seizures, benign familial infantile, 3
• c.268-2A>T Single submitter developmental and epileptic encephalopathy, 11
• c.2919+2T>A Single submitter developmental and epileptic encephalopathy, 11
• c.3399+1G>A Single submitter
• c.3521-1G>A Single submitter developmental and epileptic encephalopathy, 11
• c.3676-7C>G Single submitter Neurodevelopmental delay
• c.3850-2A>C Single submitter developmental and epileptic encephalopathy, 11
• c.3850-3T>G Single submitter
• c.386+1A>C Single submitter developmental and epileptic encephalopathy, 11
• c.386+1A>G Single submitter SCN2A-related disorder
• c.3973-2A>G Single submitter seizures, benign familial infantile, 3
• c.4255-6T>A Single submitter seizures, benign familial infantile, 3
• c.4309-2A>G Single submitter developmental and epileptic encephalopathy, 11
• c.4446+2T>C Single submitter
• c.4447-2_4449del Single submitter developmental and epileptic encephalopathy, 11
• c.4551+5G>A Single submitter developmental and epileptic encephalopathy, 11
• c.4552-2A>G Single submitter developmental and epileptic encephalopathy, 11
• c.477-2A>G Single submitter episodic ataxia, type 9
• c.970+6A>G Single submitter
• c.971-1G>A Single submitter developmental and epileptic encephalopathy, 11
• p.Ala1310Pro Single submitter seizures, benign familial infantile, 3
• p.Ala1329Asp Single submitter
• p.Ala1329Gly Single submitter seizures, benign familial infantile, 3
• p.Ala1500Val Single submitter developmental and epileptic encephalopathy, 11
• p.Ala1773Glu Single submitter developmental and epileptic encephalopathy, 11
• p.Ala202Ser Single submitter
• p.Ala215Glu Single submitter
• p.Ala215Pro Single submitter
• p.Ala240Phe Single submitter
• p.Ala263Glu Single submitter developmental and epileptic encephalopathy, 11
• p.Ala263Gly Single submitter seizures, benign familial infantile, 3
• p.Ala344Val Single submitter
• p.Ala434Pro Single submitter
• p.Arg102Gly Single submitter neurodevelopmental disorder
• p.Arg119Ile Single submitter
• p.Arg1312Thr Single submitter seizures, benign familial infantile, 3
• p.Arg1324Ser Single submitter
• p.Arg1632Met Single submitter developmental and epileptic encephalopathy, 11
• p.Arg1876Ter Single submitter SCN2A-related disorder
• p.Arg395Cys Single submitter SCN2A-related disorder
• p.Arg395Gly Single submitter developmental and epileptic encephalopathy, 11
• p.Arg545fs Single submitter developmental and epileptic encephalopathy, 11
• p.Arg570fs Single submitter developmental and epileptic encephalopathy, 12
• p.Asn1357Tyr Single submitter seizures, benign familial infantile, 3
• p.Asn1382Ser Single submitter ⚠
• p.Asn1475Ile Single submitter epilepsy
• p.Asn1544Asp Single submitter
• p.Asn1567Lys Single submitter
• p.Asn1769Ser Single submitter seizures, benign familial infantile, 3 ⚠
• p.Asn1778Ile Single submitter seizures, benign familial infantile, 3
• p.Asn212Ser Single submitter seizures, benign familial infantile, 3 ⚠
• p.Asn273Lys Single submitter developmental and epileptic encephalopathy, 11
• p.Asn624fs Single submitter developmental and epileptic encephalopathy, 11
• p.Asn868Lys Single submitter
• p.Asn976His Single submitter developmental and epileptic encephalopathy, 11
• p.Asn976Tyr Single submitter developmental and epileptic encephalopathy, 11
• p.Asp1406Tyr Single submitter seizures, benign familial infantile, 3
• p.Asp1487Val Single submitter seizures, benign familial infantile, 3
• p.Asp183Tyr Single submitter ⚠
• p.Asp343Ala Single submitter Seizure
• p.Asp521fs Single submitter developmental and epileptic encephalopathy, 11
• p.Asp55Ala Single submitter Epileptic encephalopathy ⚠
• p.Asp996Asn Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Asp997del Single submitter developmental and epileptic encephalopathy, 11
• p.Asp997Tyr Single submitter
• p.Cys1344Tyr Single submitter Epileptic encephalopathy
• p.Cys1366Arg Single submitter complex neurodevelopmental disorder
• p.Cys1386Tyr Single submitter
• p.Cys353Ser Single submitter developmental and epileptic encephalopathy, 11
• p.Cys940Tyr Single submitter Inborn genetic diseases
• p.Cys959Arg Single submitter
• p.Gln1234Ter Single submitter
• p.Gln1478His Single submitter seizures, benign familial infantile, 3
• p.Gln1478Pro Single submitter developmental and epileptic encephalopathy, 11
• p.Gln1479Arg Single submitter developmental and epileptic encephalopathy
• p.Gln1479His Single submitter
• p.Gln1838del Single submitter developmental and epileptic encephalopathy, 11
• p.Gln1913Ter Single submitter Inborn genetic diseases
• p.Gln383Leu Single submitter seizures, benign familial infantile, 3
• p.Gln461Ter Single submitter autosomal dominant non-syndromic intellectual disability
• p.Gln901Glu Single submitter
• p.Glu1120fs Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1142Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1155fs Single submitter complex neurodevelopmental disorder
• p.Glu1321Gln Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1551Ala Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1551Gly Single submitter Seizure
• p.Glu1803Gly Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1803Val Single submitter seizures, benign familial infantile, 3
• p.Glu182del Single submitter
• p.Glu1881Ter Single submitter Marfanoid habitus and intellectual disability
• p.Glu72Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Glu837fs Single submitter SCN2A-related disorder
• p.Glu942Gln Single submitter developmental and epileptic encephalopathy, 11
• p.Gly1073Ter Single submitter complex neurodevelopmental disorder
• p.Gly1332Ala Single submitter
• p.Gly1361Asp Single submitter intellectual disability
• p.Gly1484Glu Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Gly1593Val Single submitter
• p.Gly1608Val Single submitter Seizure
• p.Gly1701Ser Single submitter ⚠
• p.Gly1715Ser Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Gly1744Glu Single submitter seizures, benign familial infantile, 3
• p.Gly794Arg Single submitter developmental and epileptic encephalopathy, 11
• p.Gly800_Thr803del Single submitter developmental and epileptic encephalopathy, 11
• p.Gly879Ala Single submitter Inborn genetic diseases
• p.His930Asp Single submitter SCN2A-related disorder
• p.Ile1238fs Single submitter
• p.Ile1334Thr Single submitter
• p.Ile1337fs Single submitter seizures, benign familial infantile, 3
• p.Ile1346Asn Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1346Met Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1353Met Single submitter
• p.Ile139Val Single submitter
• p.Ile1458del Single submitter complex neurodevelopmental disorder
• p.Ile1473Lys Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1488Asn Single submitter
• p.Ile1488Val Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Ile1541Asn Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1636Asn Single submitter seizures, benign familial infantile, 3
• p.Ile1640Leu Single submitter seizures, benign familial infantile, 3
• p.Ile1663fs Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1673Phe Single submitter developmental and epileptic encephalopathy, 11
• p.Ile1760Phe Single submitter SCN2A-related disorder
• p.Ile320fs Single submitter SCN2A-related disorder
• p.Ile420Met Single submitter
• p.Ile769Val Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ile874Thr Single submitter
• p.Ile894_Ala896delinsLeuPheSer Single submitter seizures, benign familial infantile, 3
• p.Leu1280Pro Single submitter developmental and epileptic encephalopathy, 11
• p.Leu1342Arg Single submitter developmental and epileptic encephalopathy, 11
• p.Leu1415Ile Single submitter seizures, benign familial infantile, 3
• p.Leu1465Trp Single submitter
• p.Leu1563Arg Single submitter seizures, benign familial infantile, 3
• p.Leu1614Pro Single submitter developmental and epileptic encephalopathy, 11
• p.Leu1649Pro Single submitter seizures, benign familial infantile, 3
• p.Leu1653Phe Single submitter developmental and epileptic encephalopathy, 11
• p.Leu1657Pro Single submitter SCN2A-related disorder
• p.Leu1660Val Single submitter SCN2A-related disorder
• p.Leu1855Val Single submitter developmental and epileptic encephalopathy, 11
• p.Leu216Ser Single submitter developmental and epileptic encephalopathy, 11
• p.Leu222Ile Single submitter developmental and epileptic encephalopathy, 11
• p.Leu259Ile Single submitter
• p.Leu419Met Single submitter developmental and epileptic encephalopathy, 11
• p.Leu763fs Single submitter developmental and epileptic encephalopathy, 11
• p.Leu881Gln Single submitter
• p.Leu939Pro Single submitter Inborn genetic diseases
• p.Lys1069Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Lys1387fs Single submitter Autism Spectrum Disorder with Intellectual Disability
• p.Lys1442fs Single submitter SCN2A-related disorder
• p.Lys1480Arg Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Lys1890Asn Single submitter seizures, benign familial infantile, 3
• p.Lys455fs Single submitter
• p.Lys908Glu Single submitter ⚠
• p.Met1338Arg Single submitter
• p.Met1338Val Single submitter seizures, benign familial infantile, 3 ⚠
• p.Met1354fs Single submitter developmental and epileptic encephalopathy, 11
• p.Met136Lys Single submitter developmental and epileptic encephalopathy, 11
• p.Met1490Ile Single submitter seizures, benign familial infantile, 3 ⚠
• p.Met1545Ile Single submitter seizures, benign familial infantile, 3
• p.Met1548Ile Single submitter developmental and epileptic encephalopathy, 11
• p.Met1654Ile Single submitter SCN2A-related generalized epilepsy with febrile seizures plus ⚠
• p.Met1655Thr Single submitter
• p.Met1872Ile Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Met1Leu Single submitter developmental and epileptic encephalopathy, 11
• p.Met381fs Single submitter SCN2A-related disorder
• p.Met958Val Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Met965_Met967del Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1459Cys Single submitter
• p.Phe1476Ile Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1527_Asp1534del Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1533fs Single submitter developmental and epileptic encephalopathy, 11
• p.Phe1619Ser Single submitter
• p.Phe1651Cys Single submitter episodic ataxia, type 9
• p.Phe1668fs Single submitter
• p.Phe1755fs Single submitter Inborn genetic diseases
• p.Phe196Val Single submitter seizures, benign familial infantile, 3 ⚠
• p.Phe207Cys Single submitter
• p.Phe219Ser Single submitter SCN2A-related disorder
• p.Phe936Ser Single submitter SCN2A-related disorder
• p.Phe978Leu Single submitter seizures, benign familial infantile, 3
• p.Pro1512Ala Single submitter developmental and epileptic encephalopathy ⚠
• p.Pro1973Arg Single submitter seizures, benign familial infantile, 3
• p.Pro360Leu Single submitter SCN2A-related disorder
• p.Ser1222Arg Single submitter seizures, benign familial infantile, 3
• p.Ser1336Phe Single submitter developmental and epileptic encephalopathy, 11
• p.Ser1621Pro Single submitter
• p.Ser214Pro Single submitter infantile spasms
• p.Ser229Thr Single submitter Infantile spasms ⚠
• p.Ser244Pro Single submitter
• p.Ser260Ile Single submitter
• p.Ser471Ter Single submitter Neurodevelopmental delay
• p.Ser558_Leu559insTer Single submitter
• p.Ser851Leu Single submitter SCN2A-related disorder
• p.Ser931Tyr Single submitter
• p.Ser984Gly Single submitter seizures, benign familial infantile, 3
• p.Ser987Asn Single submitter SCN2A-related disorder
• p.Ser987Cys Single submitter seizures, benign familial infantile, 3
• p.Thr1623fs Single submitter SCN2A-related disorder
• p.Thr1711Ala Single submitter seizures, benign familial infantile, 3
• p.Thr185Ile Single submitter
• p.Thr393Lys Single submitter
• p.Thr435Ile Single submitter
• p.Thr866Ile Single submitter
• p.Thr957Asn Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Trp1209Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Trp1398Arg Single submitter developmental and epileptic encephalopathy, 11
• p.Trp191Gly Single submitter focal epilepsy
• p.Trp729Cys Single submitter Inborn genetic diseases ⚠
• p.Trp739Ter Single submitter
• p.Trp823Ter Single submitter SCN2A-related disorder
• p.Trp923Arg Single submitter intellectual disability
• p.Trp948Arg Single submitter
• p.Tyr1498fs Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr1498Ser Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr1498Ter Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr1771Asn Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr327Ter Single submitter SCN2A-related disorder
• p.Tyr364Ter Single submitter SCN2A-related disorder
• p.Tyr415His Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr781His Single submitter ⚠
• p.Val1380Phe Single submitter developmental and epileptic encephalopathy, 11
• p.Val1432del Single submitter developmental and epileptic encephalopathy, 11
• p.Val1627Ala Single submitter seizures, benign familial infantile, 3
• p.Val1627Leu Single submitter seizures, benign familial infantile, 3
• p.Val204fs Single submitter SCN2A-related disorder
• p.Val213Asp Single submitter
• p.Val213Gly Single submitter
• p.Val221Asp Single submitter SCN2A-related disorder
• p.Val238_Val245del Single submitter developmental and epileptic encephalopathy, 11
• p.Val251Phe Single submitter seizures, benign familial infantile, 3
• p.Val256fs Single submitter SCN2A-related disorder
• p.Val843Glu Single submitter seizures, benign familial infantile, 3
• p.Val892Phe Single submitter seizures, benign familial infantile, 3
• p.Val973Leu Single submitter seizures, benign familial infantile, 3
• c.4822+1G>A No assertion criteria developmental and epileptic encephalopathy, 11
• c.698-2A>C No assertion criteria complex neurodevelopmental disorder
• p.Ala980Pro No assertion criteria SCN2A-related disorder
• p.Arg1315Ser No assertion criteria Infantile spasms
• p.Asn1662Asp No assertion criteria complex neurodevelopmental disorder
• p.Cys910fs No assertion criteria SCN2A-related disorder
• p.Glu1133Asp No assertion criteria complex neurodevelopmental disorder ⚠
• p.Glu1784Lys No assertion criteria benign sporadic infantile epilepsy
• p.Gly1355fs No assertion criteria intellectual deficiency
• p.Gly970Ala No assertion criteria benign sporadic neonatal-infantile epilepsy
• p.Ile1633fs No assertion criteria complex neurodevelopmental disorder
• p.Ile237Asn No assertion criteria complex neurodevelopmental disorder
• p.Leu638fs No assertion criteria developmental and epileptic encephalopathy, 11
• p.Leu939Val No assertion criteria Infantile spasms
• p.Lys1502Asn No assertion criteria complex neurodevelopmental disorder
• p.Met965Arg No assertion criteria complex neurodevelopmental disorder
• p.Phe1812Tyr No assertion criteria SCN2A-related disorder
• p.Phe474Ter No assertion criteria SCN2A-related disorder
• p.Pro1335Gln No assertion criteria SCN2A-related disorder
• p.Ser1656Pro No assertion criteria unclassified developmental and epileptic encephalopathy ⚠
• p.Ser1780Ile No assertion criteria complex neurodevelopmental disorder
• p.Ser371fs No assertion criteria developmental and epileptic encephalopathy, 11
• p.Ser985Phe No assertion criteria Abnormal cerebral morphology
• p.Thr885Asn No assertion criteria autism
• p.Val1601Leu No assertion criteria complex neurodevelopmental disorder
• p.Val198Asp No assertion criteria complex neurodevelopmental disorder

Conflicting classifications of pathogenicity 149

• c.1035-15C>G Single submitter seizures, benign familial infantile, 3
• c.1672-3T>C Single submitter seizures, benign familial infantile, 3
• c.2016+10A>G Single submitter developmental and epileptic encephalopathy, 11
• c.2016+3G>A Single submitter seizures, benign familial infantile, 3
• c.2388+6C>A Single submitter developmental and epileptic encephalopathy, 11
• c.2388+9C>A Single submitter developmental and epileptic encephalopathy, 11
• c.2389-6A>G Single submitter Inborn genetic diseases
• c.2563-4C>A Single submitter developmental and epileptic encephalopathy, 11
• c.2919+4T>C Single submitter developmental and epileptic encephalopathy, 11
• c.3400-7T>C Single submitter developmental and epileptic encephalopathy, 11
• c.3521-15T>C Single submitter seizures, benign familial infantile, 3
• c.3850-3T>C Single submitter developmental and epileptic encephalopathy, 11
• c.4551+8T>G Single submitter seizures, benign familial infantile, 3
• c.4552-9T>C Single submitter seizures, benign familial infantile, 3
• c.-51-1721_-51-1720dup Single submitter
• c.*437G>A Single submitter seizures, benign familial infantile, 3
• p.Ala1152= Single submitter Inborn genetic diseases
• p.Ala1224Ser Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ala1396Val Single submitter seizures, benign familial infantile, 3
• p.Ala1419= Single submitter Inborn genetic diseases
• p.Ala1773= Single submitter Inborn genetic diseases
• p.Ala1809= Single submitter seizures, benign familial infantile, 3
• p.Ala1816Ser Single submitter Inborn genetic diseases ⚠
• p.Ala1860= Single submitter Inborn genetic diseases
• p.Ala215Val Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Ala34Thr Single submitter Inborn genetic diseases ⚠
• p.Ala427Asp Single submitter ⚠
• p.Ala467Ser Single submitter Seizure ⚠
• p.Ala647Thr Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ala733Thr Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Ala880Ser Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ala980= Single submitter seizures, benign familial infantile, 3
• p.Ala980Gly Single submitter ⚠
• p.Arg1177Gln Single submitter episodic ataxia, type 9 ⚠
• p.Arg1177Trp Single submitter genetic developmental and epileptic encephalopathy ⚠
• p.Arg1315Gly Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg1435Gln Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1586His Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg15Cys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1632Lys Single submitter SCN2A-related disorder ⚠
• p.Arg1638Cys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1647His Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1851Trp Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1902His Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1918Cys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg1918His Single submitter episodic ataxia, type 9 ⚠
• p.Arg28Cys Single submitter Inborn genetic diseases ⚠
• p.Arg28His Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg41Cys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg41His Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg538His Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg607Gln Single submitter seizures, benign familial infantile, 3 ⚠
• p.Arg616Gly Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg630His Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg684Gln Single submitter Inborn genetic diseases ⚠
• p.Arg684Trp Single submitter Inborn genetic diseases ⚠
• p.Arg922= Single submitter seizures, benign familial infantile, 3
• p.Arg922Cys Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Arg922His Single submitter SCN2A-mediated disorder ⚠
• p.Asn1066His Single submitter seizures, benign familial infantile, 3 ⚠
• p.Asn1835= Single submitter Inborn genetic diseases
• p.Asn734Asp Single submitter ⚠
• p.Asp1070= Single submitter Inborn genetic diseases
• p.Asp1174Gly Single submitter Inborn genetic diseases ⚠
• p.Asp1823Ala Single submitter Inborn genetic diseases ⚠
• p.Asp195Gly Single submitter Inborn genetic diseases ⚠
• p.Asp343Asn Single submitter ⚠
• p.Asp521His Single submitter seizures, benign familial infantile, 3 ⚠
• p.Asp997Gly Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Cys1386Gly Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Cys1706Ser Single submitter seizures, benign familial infantile, 3 ⚠
• p.Gln1811His Single submitter seizures, benign familial infantile, 3 ⚠
• p.Gln27= Single submitter developmental and epileptic encephalopathy, 11
• p.Glu1153Lys Single submitter episodic ataxia, type 9 ⚠
• p.Glu1162Val Single submitter episodic ataxia, type 9 ⚠
• p.Glu318Lys Single submitter Inborn genetic diseases ⚠
• p.Glu459Ala Single submitter Inborn genetic diseases ⚠
• p.Gly1522Ala Single submitter Inborn genetic diseases ⚠
• p.Gly1608Arg Single submitter ⚠
• p.Gly272= Single submitter developmental and epileptic encephalopathy, 11
• p.Gly479Val Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Gly659Val Single submitter seizures, benign familial infantile, 3 ⚠
• p.Gly667= Single submitter developmental and epileptic encephalopathy, 11
• p.Gly673= Single submitter seizures, benign familial infantile, 3
• p.Gly879Arg Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Ile1186Val Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ile1541Met Single submitter episodic ataxia, type 9 ⚠
• p.Ile237Thr Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Ile587Leu Single submitter Inborn genetic diseases ⚠
• p.Ile707Leu Single submitter Inborn genetic diseases ⚠
• p.Ile874Val Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ile891= Single submitter seizures, benign familial infantile, 3
• p.Leu1193= Single submitter Inborn genetic diseases
• p.Leu1829Phe Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Leu1855Ile Single submitter seizures, benign familial infantile, 3 ⚠
• p.Leu1858= Single submitter Inborn genetic diseases
• p.Leu1875Phe Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Leu194= Single submitter seizures, benign familial infantile, 3
• p.Leu210Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 ⚠
• p.Leu635Pro Single submitter seizures, benign familial infantile, 3 ⚠
• p.Leu669Phe Single submitter seizures, benign familial infantile, 3 ⚠
• p.Leu746Val Single submitter ⚠
• p.Leu888= Single submitter seizures, benign familial infantile, 3
• p.Leu975= Single submitter seizures, benign familial infantile, 3
• p.Lys1863Asn Single submitter Inborn genetic diseases ⚠
• p.Lys509Arg Single submitter Inborn genetic diseases ⚠
• p.Lys682Asn Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Met1374Lys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Met1501Ile Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Met381Val Single submitter Inborn genetic diseases ⚠
• p.Met735Lys Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Met925Thr Single submitter seizures, benign familial infantile, 3 ⚠
• p.Phe307Leu Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Pro1512Ser Single submitter ⚠
• p.Pro1622Leu Single submitter ⚠
• p.Pro614Leu Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Pro71Ser Single submitter seizures, benign familial infantile, 3 ⚠
• p.Pro8= Single submitter Inborn genetic diseases
• p.Ser1378= Single submitter developmental and epileptic encephalopathy, 11
• p.Ser299= Single submitter Inborn genetic diseases
• p.Ser468del Single submitter developmental and epileptic encephalopathy, 11
• p.Ser847Pro Single submitter seizures, benign familial infantile, 3 ⚠
• p.Ser877= Single submitter developmental and epileptic encephalopathy, 11
• p.Ser985= Single submitter Inborn genetic diseases
• p.Thr1200Ala Single submitter Inborn genetic diseases ⚠
• p.Thr1290= Single submitter seizures, benign familial infantile, 3
• p.Thr1420= Single submitter developmental and epileptic encephalopathy, 11
• p.Thr1963= Single submitter seizures, benign familial infantile, 3
• p.Thr293Ala Single submitter Inborn genetic diseases ⚠
• p.Thr400Arg Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Thr662Ala Single submitter Inborn genetic diseases ⚠
• p.Thr675Ala Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Thr885Ile Single submitter seizures, benign familial infantile, 3 ⚠
• p.Thr885Pro Single submitter seizures, benign familial infantile, 3 ⚠
• p.Tyr1231His Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Tyr1450Cys Single submitter seizures, benign familial infantile, 3 ⚠
• p.Tyr1498His Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Tyr1799= Single submitter developmental and epileptic encephalopathy, 11
• p.Tyr816Phe Single submitter seizures, benign familial infantile, 3 ⚠
• p.Tyr85Cys Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Val1215Phe Single submitter ⚠
• p.Val1326Ala Single submitter Inborn genetic diseases ⚠
• p.Val1377Leu Single submitter seizures, benign familial infantile, 3 ⚠
• p.Val1379Met Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Val1601Met Single submitter seizures, benign familial infantile, 3 ⚠
• p.Val208Met Single submitter developmental and epileptic encephalopathy, 11 ⚠
• p.Val238Ala Single submitter complex neurodevelopmental disorder ⚠
• p.Val423= Single submitter developmental and epileptic encephalopathy, 11
• p.Val797Ile Single submitter SCN2A-related nonspecific severe intellectual disability ⚠

Benign 123

• p.Ala467Thr Expert panel complex neurodevelopmental disorder
• p.Arg19Lys Expert panel complex neurodevelopmental disorder
• p.Arg524Gln Expert panel complex neurodevelopmental disorder
• p.Lys908Arg Expert panel complex neurodevelopmental disorder
• c.1035-3T>C Multiple submitters episodic ataxia, type 9
• c.1035-57A>G Multiple submitters
• c.1035-7A>C Multiple submitters developmental and epileptic encephalopathy, 11
• c.1671+49A>G Multiple submitters episodic ataxia, type 9
• c.1672-16C>T Multiple submitters developmental and epileptic encephalopathy, 11
• c.2017-38A>G Multiple submitters
• c.2017-89A>G Multiple submitters
• c.2149+182_2149+183del Multiple submitters
• c.2149+183del Multiple submitters
• c.2149+83C>T Multiple submitters
• c.2150-67T>C Multiple submitters
• c.2563-163T>C Multiple submitters
• c.267+51G>A Multiple submitters
• c.268-266T>C Multiple submitters
• c.268-28A>G Multiple submitters episodic ataxia, type 9
• c.3400-71C>T Multiple submitters
• c.3400-74del Multiple submitters
• c.3675+166G>A Multiple submitters
• c.3676-55A>G Multiple submitters
• c.3849+169A>G Multiple submitters
• c.3849+241T>G Multiple submitters
• c.3849+298A>G Multiple submitters
• c.3850-226C>T Multiple submitters
• c.3850-330C>T Multiple submitters
• c.3850-339A>G Multiple submitters
• c.387-10G>A Multiple submitters developmental and epileptic encephalopathy, 11
• c.3972+65T>C Multiple submitters
• c.3972+73T>A Multiple submitters
• c.4254+158A>G Multiple submitters
• c.4255-31A>G Multiple submitters seizures, benign familial infantile, 3
• c.4255-92T>C Multiple submitters
• c.4447-106T>C Multiple submitters
• c.4552-50C>T Multiple submitters
• c.4822+48A>G Multiple submitters
• c.970+61T>A Multiple submitters
• c.971-32A>G Multiple submitters
• c.-51-172T>C Multiple submitters
• c.-51-98A>G Multiple submitters
• c.*1713G>A Multiple submitters seizures, benign familial infantile, 3
• c.*417C>T Multiple submitters seizures, benign familial infantile, 3
• p.Arg1638= Multiple submitters episodic ataxia, type 9
• p.Asp595= Multiple submitters Inborn genetic diseases
• p.Ser1124= Multiple submitters Inborn genetic diseases
• p.Thr1970= Multiple submitters Inborn genetic diseases
• p.Val653= Multiple submitters Inborn genetic diseases
• c.1034+14C>T Single submitter
• c.1035-163A>G Single submitter
• c.1035-298T>A Single submitter
• c.1176+43C>T Single submitter
• c.1383+189A>C Single submitter
• c.1383+50T>C Single submitter
• c.1672-2888T>C Single submitter
• c.1672-309C>A Single submitter
• c.2016+337T>A Single submitter
• c.2017-148G>T Single submitter
• c.2149+195C>G Single submitter
• c.2149+196C>T Single submitter
• c.2149+51A>G Single submitter
• c.2150-205T>G Single submitter
• c.2150-306T>C Single submitter
• c.2150-8del Single submitter seizures, benign familial infantile, 3
• c.2389-280A>G Single submitter
• c.2389-48G>A Single submitter
• c.2562+305T>A Single submitter
• c.2563-184A>G Single submitter
• c.268-150dup Single submitter
• c.268-252A>G Single submitter
• c.268-321dup Single submitter
• c.2919+240T>A Single submitter
• c.2920-265del Single submitter
• c.2920-279_2920-272del Single submitter
• c.3399+234C>T Single submitter
• c.3399+26T>A Single submitter
• c.3400-344A>G Single submitter
• c.3400-75_3400-74del Single submitter
• c.3520+10del Single submitter seizures, benign familial infantile, 3
• c.3520+111TATC[5] Single submitter
• c.3520+111TATC[7] Single submitter
• c.3520+184_3520+185dup Single submitter
• c.3520+185dup Single submitter
• c.3675+224A>C Single submitter
• c.3675+294G>C Single submitter
• c.3676-278G>C Single submitter
• c.386+11dup Single submitter developmental and epileptic encephalopathy, 11
• c.387-135del Single submitter
• c.387-34C>T Single submitter
• c.4308+205A>G Single submitter
• c.4308+208T>C Single submitter
• c.4308+283T>A Single submitter
• c.4308+286C>G Single submitter
• c.4309-210T>G Single submitter
• c.4309-231del Single submitter
• c.4551+318del Single submitter
• c.4551+327T>C Single submitter
• c.4552-259A>G Single submitter
• c.477-289G>A Single submitter
• c.4822+311T>C Single submitter
• c.4823-24T>G Single submitter
• c.698-161C>T Single submitter
• c.-51-1722_-51-1720dup Single submitter
• c.*1036T>C Single submitter seizures, benign familial infantile, 3
• c.*1056T>C Single submitter seizures, benign familial infantile, 3
• c.*1474G>A Single submitter seizures, benign familial infantile, 3
• c.*1507T>G Single submitter seizures, benign familial infantile, 3
• c.*1753C>T Single submitter seizures, benign familial infantile, 3
• c.*1758C>T Single submitter seizures, benign familial infantile, 3
• c.*2222G>A Single submitter seizures, benign familial infantile, 3
• c.*2364T>G Single submitter seizures, benign familial infantile, 3
• c.*2422G>T Single submitter seizures, benign familial infantile, 3
• c.*2423A>G Single submitter seizures, benign familial infantile, 3
• c.*2440C>G Single submitter seizures, benign familial infantile, 3
• c.*46C>T Single submitter
• c.*557G>A Single submitter seizures, benign familial infantile, 3
• c.*853C>T Single submitter seizures, benign familial infantile, 3
• p.Cys725= Single submitter seizures, benign familial infantile, 3
• p.Glu1796= Single submitter
• p.Ile1014Phe Single submitter
• p.Leu1639= Single submitter
• p.Leu407= Single submitter

Benign/Likely benign 51

• c.2149+19G>A Multiple submitters developmental and epileptic encephalopathy, 11
• c.2149+8A>G Multiple submitters developmental and epileptic encephalopathy, 11
• c.2388+12T>C Multiple submitters seizures, benign familial infantile, 3
• c.2389-18A>C Multiple submitters seizures, benign familial infantile, 3
• c.2562+5A>G Multiple submitters Inborn genetic diseases
• c.2919+8G>A Multiple submitters seizures, benign familial infantile, 3
• c.3520+11C>T Multiple submitters seizures, benign familial infantile, 3
• c.3675+19A>G Multiple submitters seizures, benign familial infantile, 3
• c.386+17C>T Multiple submitters seizures, benign familial infantile, 3
• p.Ala24Thr Multiple submitters Inborn genetic diseases
• p.Ala575= Multiple submitters Inborn genetic diseases
• p.Arg1198= Multiple submitters Inborn genetic diseases
• p.Arg379= Multiple submitters seizures, benign familial infantile, 3
• p.Arg472= Multiple submitters Inborn genetic diseases
• p.Asn795= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asp1736Glu Multiple submitters seizures, benign familial infantile, 3
• p.Glu1788= Multiple submitters seizures, benign familial infantile, 3
• p.Glu1939= Multiple submitters Inborn genetic diseases
• p.Glu512= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Gly1071= Multiple submitters seizures, benign familial infantile, 3
• p.Gly59= Multiple submitters seizures, benign familial infantile, 3
• p.Gly659Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ile1513= Multiple submitters Inborn genetic diseases
• p.Ile1663= Multiple submitters Inborn genetic diseases
• p.Ile320= Multiple submitters Inborn genetic diseases
• p.Leu1280= Multiple submitters Inborn genetic diseases
• p.Leu1707= Multiple submitters seizures, benign familial infantile, 3
• p.Leu1776= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu279= Multiple submitters Inborn genetic diseases
• p.Leu493= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu695= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu902= Multiple submitters seizures, benign familial infantile, 3
• p.Lys173= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Lys1743= Multiple submitters seizures, benign familial infantile, 3
• p.Lys1998= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Phe328Val Multiple submitters seizures, benign familial infantile, 3
• p.Pro1041= Multiple submitters seizures, benign familial infantile, 3
• p.Pro1151= Multiple submitters Inborn genetic diseases
• p.Pro1973= Multiple submitters Inborn genetic diseases
• p.Pro614= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ser1318= Multiple submitters seizures, benign familial infantile, 3
• p.Ser1977= Multiple submitters Inborn genetic diseases
• p.Thr1370= Multiple submitters seizures, benign familial infantile, 3
• p.Thr1648= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr293= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr678= Multiple submitters Inborn genetic diseases
• p.Tyr1429= Multiple submitters Inborn genetic diseases
• p.Tyr1919= Multiple submitters Inborn genetic diseases
• p.Val1620= Multiple submitters Inborn genetic diseases
• p.Val657= Multiple submitters Inborn genetic diseases
• p.Val953= Multiple submitters seizures, benign familial infantile, 3

Likely benign 668

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

• p.Asp1015Asn Expert panel complex neurodevelopmental disorder
• c.1177-15T>G Multiple submitters seizures, benign familial infantile, 3
• c.1177-16C>G Multiple submitters seizures, benign familial infantile, 3
• c.1177-16C>T Multiple submitters seizures, benign familial infantile, 3
• c.1383+20G>A Multiple submitters seizures, benign familial infantile, 3
• c.1384-10G>A Multiple submitters developmental and epileptic encephalopathy, 11
• c.1384-4C>G Multiple submitters Inborn genetic diseases
• c.1671+45A>T Multiple submitters
• c.1671+64T>C Multiple submitters
• c.1672-4A>G Multiple submitters developmental and epileptic encephalopathy, 11
• c.1672-7T>C Multiple submitters seizures, benign familial infantile, 3
• c.2017-6T>C Multiple submitters developmental and epileptic encephalopathy, 11
• c.2017-9T>C Multiple submitters seizures, benign familial infantile, 3
• c.2150-10T>G Multiple submitters seizures, benign familial infantile, 3
• c.2388+126G>A Multiple submitters
• c.268-280G>A Multiple submitters
• c.2919+16A>G Multiple submitters developmental and epileptic encephalopathy, 11
• c.2920-4T>G Multiple submitters seizures, benign familial infantile, 3
• c.3399+14A>C Multiple submitters seizures, benign familial infantile, 3
• c.3521-12C>T Multiple submitters seizures, benign familial infantile, 3
• c.3675+9T>C Multiple submitters developmental and epileptic encephalopathy, 11
• c.3676-20T>C Multiple submitters developmental and epileptic encephalopathy, 11
• c.3676-9G>T Multiple submitters seizures, benign familial infantile, 3
• c.3850-40T>C Multiple submitters
• c.3850-92C>T Multiple submitters
• c.4254+15T>C Multiple submitters seizures, benign familial infantile, 3
• c.4447-6C>T Multiple submitters developmental and epileptic encephalopathy, 11
• c.4551+10A>G Multiple submitters developmental and epileptic encephalopathy, 11
• c.4552-14A>G Multiple submitters developmental and epileptic encephalopathy, 11
• c.477-13T>C Multiple submitters seizures, benign familial infantile, 3
• c.4823-15G>T Multiple submitters seizures, benign familial infantile, 3
• c.605+19T>C Multiple submitters developmental and epileptic encephalopathy, 11
• c.698-20C>T Multiple submitters developmental and epileptic encephalopathy, 11
• c.970+20C>G Multiple submitters developmental and epileptic encephalopathy, 11
• c.970+8A>G Multiple submitters seizures, benign familial infantile, 3
• c.-51-61A>G Multiple submitters
• p.Ala1152Thr Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala1245= Multiple submitters seizures, benign familial infantile, 3
• p.Ala1659= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala215= Multiple submitters seizures, benign familial infantile, 3
• p.Ala224= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala462= Multiple submitters Inborn genetic diseases
• p.Ala647= Multiple submitters seizures, benign familial infantile, 3
• p.Ala764= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ala889= Multiple submitters seizures, benign familial infantile, 3
• p.Arg937= Multiple submitters seizures, benign familial infantile, 3
• p.Asn1116= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asn1208= Multiple submitters Inborn genetic diseases
• p.Asn1407= Multiple submitters seizures, benign familial infantile, 3
• p.Asn1681= Multiple submitters seizures, benign familial infantile, 3
• p.Asn641= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asn651= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asn976= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asp1147= Multiple submitters seizures, benign familial infantile, 3
• p.Asp1487= Multiple submitters Inborn genetic diseases
• p.Asp1856= Multiple submitters Inborn genetic diseases
• p.Asp1935= Multiple submitters Inborn genetic diseases
• p.Asp322= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Asp693= Multiple submitters seizures, benign familial infantile, 3
• p.Cys768= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Gln1234= Multiple submitters seizures, benign familial infantile, 3
• p.Gln1557= Multiple submitters Inborn genetic diseases
• p.Gln1709= Multiple submitters seizures, benign familial infantile, 3
• p.Gln280= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Gln346= Multiple submitters seizures, benign familial infantile, 3
• p.Glu1162= Multiple submitters seizures, benign familial infantile, 3
• p.Glu1187= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Glu1206= Multiple submitters seizures, benign familial infantile, 3
• p.Glu206= Multiple submitters seizures, benign familial infantile, 3
• p.Glu44= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Glu451= Multiple submitters seizures, benign familial infantile, 3
• p.Glu719= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Glu919= Multiple submitters seizures, benign familial infantile, 3
• p.Gly1110= Multiple submitters seizures, benign familial infantile, 3
• p.Gly1149Ala Multiple submitters Inborn genetic diseases
• p.Gly1189Asp Multiple submitters developmental and epileptic encephalopathy, 11 ⚠
• p.Gly1739= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Gly479= Multiple submitters developmental and epileptic encephalopathy, 11
• p.His622= Multiple submitters seizures, benign familial infantile, 3
• p.Ile1005= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ile1772= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ile1912= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ile265= Multiple submitters seizures, benign familial infantile, 3
• p.Ile934= Multiple submitters seizures, benign familial infantile, 3
• p.Leu1045= Multiple submitters Inborn genetic diseases
• p.Leu1065= Multiple submitters Inborn genetic diseases
• p.Leu1349= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu1451= Multiple submitters seizures, benign familial infantile, 3
• p.Leu1614= Multiple submitters seizures, benign familial infantile, 3
• p.Leu1666= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu1667= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu1719= Multiple submitters seizures, benign familial infantile, 3
• p.Leu1920= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu436= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu541= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu611= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu833= Multiple submitters seizures, benign familial infantile, 3
• p.Leu840= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Leu881= Multiple submitters seizures, benign familial infantile, 3
• p.Lys1519= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Lys1985= Multiple submitters seizures, benign familial infantile, 3
• p.Lys535= Multiple submitters seizures, benign familial infantile, 3
• p.Met692Val Multiple submitters Inborn genetic diseases
• p.Phe612= Multiple submitters Inborn genetic diseases
• p.Pro1313= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Pro1722= Multiple submitters seizures, benign familial infantile, 3
• p.Pro1729= Multiple submitters
• p.Pro1827= Multiple submitters seizures, benign familial infantile, 3
• p.Ser1848= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ser1886= Multiple submitters seizures, benign familial infantile, 3
• p.Ser371= Multiple submitters seizures, benign familial infantile, 3
• p.Ser491= Multiple submitters seizures, benign familial infantile, 3
• p.Ser514= Multiple submitters seizures, benign familial infantile, 3
• p.Ser526= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Ser646= Multiple submitters seizures, benign familial infantile, 3
• p.Ser847= Multiple submitters seizures, benign familial infantile, 3
• p.Thr1172= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr138= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr1552= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr1699= Multiple submitters seizures, benign familial infantile, 3
• p.Thr185= Multiple submitters Inborn genetic diseases
• p.Thr227= Multiple submitters seizures, benign familial infantile, 3
• p.Thr306Ser Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr365= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr382= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr400= Multiple submitters seizures, benign familial infantile, 3
• p.Thr662= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Thr664= Multiple submitters seizures, benign familial infantile, 3
• p.Thr784= Multiple submitters seizures, benign familial infantile, 3
• p.Thr90= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Tyr84= Multiple submitters Inborn genetic diseases
• p.Val1086= Multiple submitters Inborn genetic diseases
• p.Val1087= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Val1287= Multiple submitters Inborn genetic diseases
• p.Val144= Multiple submitters seizures, benign familial infantile, 3
• p.Val1532= Multiple submitters seizures, benign familial infantile, 3
• p.Val261= Multiple submitters developmental and epileptic encephalopathy, 11
• p.Val887= Multiple submitters seizures, benign familial infantile, 3
• c.1034+10G>A Single submitter seizures, benign familial infantile, 3
• c.1034+15C>T Single submitter seizures, benign familial infantile, 3
• c.1035-113C>T Single submitter
• c.1035-13A>G Single submitter seizures, benign familial infantile, 3
• c.1035-55C>A Single submitter
• c.1176+11A>T Single submitter seizures, benign familial infantile, 3
• c.1176+12T>C Single submitter seizures, benign familial infantile, 3
• c.1176+13A>T Single submitter seizures, benign familial infantile, 3
• c.1177-6T>A Single submitter seizures, benign familial infantile, 3
• c.1177-8T>C Single submitter seizures, benign familial infantile, 3
• c.1383+17T>C Single submitter seizures, benign familial infantile, 3
• c.1383+19C>T Single submitter developmental and epileptic encephalopathy, 11
• c.1383+7T>C Single submitter seizures, benign familial infantile, 3
• c.1384-11C>T Single submitter seizures, benign familial infantile, 3
• c.1384-12G>T Single submitter developmental and epileptic encephalopathy, 11
• c.1384-15T>C Single submitter seizures, benign familial infantile, 3
• c.1384-19A>G Single submitter developmental and epileptic encephalopathy, 11
• c.1384-7C>A Single submitter developmental and epileptic encephalopathy, 11
• c.1384-7C>T Single submitter seizures, benign familial infantile, 3
• c.1384-8C>T Single submitter developmental and epileptic encephalopathy, 11
• c.1671+14A>T Single submitter seizures, benign familial infantile, 3
• c.1671+19A>G Single submitter seizures, benign familial infantile, 3
• c.1672-10T>G Single submitter
• c.1672-13T>C Single submitter developmental and epileptic encephalopathy, 11
• c.1672-13T>G Single submitter developmental and epileptic encephalopathy, 11
• c.1672-176T>A Single submitter
• c.1672-2786C>T Single submitter
• c.1672-2816C>T Single submitter
• c.1672-6T>A Single submitter developmental and epileptic encephalopathy, 11
• c.1672-8A>T Single submitter seizures, benign familial infantile, 3
• c.2016+120G>A Single submitter
• c.2016+13A>G Single submitter seizures, benign familial infantile, 3
• c.2016+17T>C Single submitter developmental and epileptic encephalopathy, 11
• c.2016+18T>G Single submitter seizures, benign familial infantile, 3
• c.2017-18C>T Single submitter
• c.2149+11A>C Single submitter seizures, benign familial infantile, 3
• c.2149+136C>T Single submitter
• c.2149+16T>C Single submitter seizures, benign familial infantile, 3
• c.2149+17G>C Single submitter developmental and epileptic encephalopathy, 11
• c.2149+18C>T Single submitter seizures, benign familial infantile, 3
• c.2149+22A>T Single submitter
• c.2149+9A>G Single submitter seizures, benign familial infantile, 3
• c.2150-17A>C Single submitter seizures, benign familial infantile, 3
• c.2150-19C>T Single submitter developmental and epileptic encephalopathy, 11
• c.2150-236A>G Single submitter
• c.2150-5T>A Single submitter developmental and epileptic encephalopathy, 11
• c.2150-9T>C Single submitter developmental and epileptic encephalopathy, 11
• c.2388+11C>G Single submitter seizures, benign familial infantile, 3
• c.2388+12T>A Single submitter developmental and epileptic encephalopathy, 11
• c.2388+20T>G Single submitter developmental and epileptic encephalopathy, 11
• c.2388+8T>C Single submitter seizures, benign familial infantile, 3
• c.2389-17C>T Single submitter seizures, benign familial infantile, 3
• c.2389-7C>A Single submitter seizures, benign familial infantile, 3
• c.2389-9C>T Single submitter seizures, benign familial infantile, 3
• c.2562+11T>G Single submitter seizures, benign familial infantile, 3
• c.2562+13G>A Single submitter
• c.2563-13C>T Single submitter seizures, benign familial infantile, 3
• c.2563-20G>A Single submitter developmental and epileptic encephalopathy, 11
• c.2563-4C>T Single submitter seizures, benign familial infantile, 3
• c.267+17G>A Single submitter seizures, benign familial infantile, 3
• c.267+292C>T Single submitter
• c.268-14_268-13del Single submitter developmental and epileptic encephalopathy, 11
• c.268-16G>A Single submitter seizures, benign familial infantile, 3
• c.268-19G>A Single submitter
• c.268-9C>G Single submitter seizures, benign familial infantile, 3
• c.2919+10A>G Single submitter developmental and epileptic encephalopathy, 11
• c.2919+15C>T Single submitter developmental and epileptic encephalopathy, 11
• c.2919+16A>T Single submitter developmental and epileptic encephalopathy, 11
• c.2919+7A>G Single submitter seizures, benign familial infantile, 3
• c.2920-12G>A Single submitter developmental and epileptic encephalopathy, 11
• c.2920-7G>A Single submitter seizures, benign familial infantile, 3
• c.3399+15_3399+18del Single submitter seizures, benign familial infantile, 3
• c.3400-12A>G Single submitter developmental and epileptic encephalopathy, 11
• c.3400-13G>A Single submitter seizures, benign familial infantile, 3
• c.3400-24T>G Single submitter
• c.3400-4dup Single submitter seizures, benign familial infantile, 3
• c.3400-4T>C Single submitter developmental and epileptic encephalopathy, 11
• c.3400-74dup Single submitter
• c.3520+12A>G Single submitter seizures, benign familial infantile, 3
• c.3520+14T>C Single submitter seizures, benign familial infantile, 3
• c.3520+18A>G Single submitter developmental and epileptic encephalopathy, 11
• c.3520+20A>G Single submitter developmental and epileptic encephalopathy, 11
• c.3520+327A>C Single submitter
• c.3521-10C>T Single submitter seizures, benign familial infantile, 3
• c.3521-13C>T Single submitter seizures, benign familial infantile, 3
• c.3521-4T>G Single submitter developmental and epileptic encephalopathy, 11
• c.3521-58C>G Single submitter
• c.3521-9A>G Single submitter seizures, benign familial infantile, 3
• c.3675+10G>C Single submitter developmental and epileptic encephalopathy, 11
• c.3675+13T>C Single submitter seizures, benign familial infantile, 3
• c.3675+19A>C Single submitter seizures, benign familial infantile, 3
• c.3675+7G>T Single submitter developmental and epileptic encephalopathy, 11
• c.3676-19A>G Single submitter developmental and epileptic encephalopathy, 11
• c.3676-4A>G Single submitter seizures, benign familial infantile, 3
• c.3849+13del Single submitter developmental and epileptic encephalopathy, 11
• c.3849+15del Single submitter seizures, benign familial infantile, 3
• c.3849+19G>A Single submitter seizures, benign familial infantile, 3
• c.3849+19G>C Single submitter seizures, benign familial infantile, 3
• c.3850-13T>C Single submitter
• c.3850-15G>A Single submitter developmental and epileptic encephalopathy, 11
• c.3850-231G>A Single submitter
• c.3850-6G>T Single submitter seizures, benign familial infantile, 3
• c.3850-9T>C Single submitter seizures, benign familial infantile, 3
• c.386+18G>A Single submitter seizures, benign familial infantile, 3
• c.387-11C>T Single submitter developmental and epileptic encephalopathy, 11
• c.387-4C>T Single submitter developmental and epileptic encephalopathy, 11
• c.387-6T>C Single submitter seizures, benign familial infantile, 3
• c.387-99G>T Single submitter
• c.3972+9G>A Single submitter developmental and epileptic encephalopathy, 11
• c.3972+9G>T Single submitter seizures, benign familial infantile, 3
• c.3973-10C>T Single submitter developmental and epileptic encephalopathy, 11
• c.3973-14T>A Single submitter seizures, benign familial infantile, 3
• c.3973-243A>T Single submitter
• c.3973-268G>A Single submitter
• c.3973-7G>T Single submitter seizures, benign familial infantile, 3
• c.4254+13T>C Single submitter seizures, benign familial infantile, 3
• c.4254+151C>A Single submitter
• c.4254+233A>G Single submitter
• c.4255-12C>G Single submitter developmental and epileptic encephalopathy, 11
• c.4255-16A>G Single submitter developmental and epileptic encephalopathy, 11
• c.4255-4A>G Single submitter developmental and epileptic encephalopathy, 11
• c.4308+10G>T Single submitter developmental and epileptic encephalopathy, 11
• c.4308+15A>C Single submitter seizures, benign familial infantile, 3
• c.4308+282T>C Single submitter
• c.4309-10T>C Single submitter
• c.4309-11A>G Single submitter seizures, benign familial infantile, 3
• c.4309-20C>T Single submitter developmental and epileptic encephalopathy, 11
• c.4309-42C>T Single submitter
• c.4446+11T>C Single submitter developmental and epileptic encephalopathy, 11
• c.4446+15A>G Single submitter seizures, benign familial infantile, 3
• c.4446+16C>T Single submitter seizures, benign familial infantile, 3
• c.4446+18T>A Single submitter seizures, benign familial infantile, 3
• c.4447-20T>G Single submitter seizures, benign familial infantile, 3
• c.4551+11C>T Single submitter seizures, benign familial infantile, 3
• c.4551+12A>G Single submitter seizures, benign familial infantile, 3
• c.4551+173G>A Single submitter
• c.4551+19C>A Single submitter seizures, benign familial infantile, 3
• c.4551+20A>G Single submitter seizures, benign familial infantile, 3
• c.4551+8T>C Single submitter seizures, benign familial infantile, 3
• c.4552-10T>C Single submitter seizures, benign familial infantile, 3
• c.4552-12T>C Single submitter seizures, benign familial infantile, 3
• c.4552-133dup Single submitter
• c.4552-14del Single submitter seizures, benign familial infantile, 3
• c.4552-15T>C Single submitter seizures, benign familial infantile, 3
• c.4552-16A>G Single submitter seizures, benign familial infantile, 3
• c.4552-16A>T Single submitter developmental and epileptic encephalopathy, 11
• c.4552-216A>T Single submitter
• c.4552-268dup Single submitter
• c.4552-4C>A Single submitter developmental and epileptic encephalopathy, 11
• c.4552-5T>C Single submitter developmental and epileptic encephalopathy, 11
• c.476+17T>A Single submitter developmental and epileptic encephalopathy, 11
• c.477-15G>A Single submitter seizures, benign familial infantile, 3
• c.477-15G>T Single submitter seizures, benign familial infantile, 3
• c.477-20G>A Single submitter seizures, benign familial infantile, 3
• c.477-5C>T Single submitter seizures, benign familial infantile, 3
• c.4822+8G>A Single submitter developmental and epileptic encephalopathy, 11
• c.4823-15G>A Single submitter seizures, benign familial infantile, 3
• c.4823-19A>G Single submitter seizures, benign familial infantile, 3
• c.4823-6C>A Single submitter seizures, benign familial infantile, 3
• c.605+11T>C Single submitter seizures, benign familial infantile, 3
• c.605+13A>G Single submitter
• c.605+14_605+15insTA Single submitter seizures, benign familial infantile, 3