| - GRCh37:
- Chr2:166854645
- GRCh38:
- Chr2:165998135
| LOC102724058, SCN1A | Y1431C, Y1432C, Y1448C, Y1449C, Y1460C, Y646C | Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B | Likely pathogenic
(May 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166848522
- GRCh38:
- Chr2:165992012
| LOC102724058, SCN1A | D1726N, D1727N, D1743N, D1744N, D1755N, D941N | Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B,
Migraine, familial hemiplegic, 3 | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166903487
- GRCh38:
- Chr2:166046977
| SCN1A | | Developmental and epileptic encephalopathy 6B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:166895930-166895931
- GRCh38:
- Chr2:166039420-166039421
| SCN1A | | Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Migraine, familial hemiplegic, 3,
Developmental and epileptic encephalopathy 6B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:166868705
- GRCh38:
- Chr2:166012195
| LOC102724058, SCN1A | L1236M, L1237M, L1253M, L1254M, L1265M, L451M | Developmental and epileptic encephalopathy 6B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:166866232
- GRCh38:
- Chr2:166009722
| LOC102724058, SCN1A | M1304I, M1305I, M1321I, M1322I, M1333I, M519I | Developmental and epileptic encephalopathy 6B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:166848486
- GRCh38:
- Chr2:165991976
| LOC102724058, SCN1A | V1738F, V1739F, V1755F, V1756F, V1767F, V953F | Developmental and epileptic encephalopathy 6B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:166848309
- GRCh38:
- Chr2:165991799
| LOC102724058, SCN1A | E1012*, E1797*, E1798*, E1814*, E1815*, E1826* | Developmental and epileptic encephalopathy 6B | Pathogenic
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166894377
- GRCh38:
- Chr2:166037867
| SCN1A | W138L, W923L, W924L, W940L, W941L, W952L | Developmental and epileptic encephalopathy 6B | Likely pathogenic
(May 2, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:166854634
- GRCh38:
- Chr2:165998124
| LOC102724058, SCN1A | V1435L, V1436L, V1452L, V1453L, V1464L, V650L | Developmental and epileptic encephalopathy 6B | Benign
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166903354
- GRCh38:
- Chr2:166046844
| SCN1A | E435fs | Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B | Likely pathogenic
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166934312
- GRCh38:
- Chr2:166077802
| SCN1A | | Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B,
Migraine, familial hemiplegic, 3 | Uncertain significance
(Jul 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166847934
- GRCh38:
- Chr2:165991424
| LOC102724058, SCN1A | A1137P, A1922P, A1951P, A1939P, A1923P, A1940P | Developmental and epileptic encephalopathy 6B, Early infantile epileptic encephalopathy with suppression bursts | Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166897732
- GRCh38:
- Chr2:166041222
| SCN1A | | Early infantile epileptic encephalopathy with suppression bursts, Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy,
Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2 | Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166900240
- GRCh38:
- Chr2:166043730
| SCN1A | T660I, T661I | Developmental and epileptic encephalopathy 6B, Early infantile epileptic encephalopathy with suppression bursts | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166908382
- GRCh38:
- Chr2:166051872
| SCN1A | G271S | Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B,
Migraine, familial hemiplegic, 3, Early infantile epileptic encephalopathy with suppression bursts | Pathogenic/Likely pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166901758
- GRCh38:
- Chr2:166045248
| SCN1A | A485G, A486G | Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2,
Migraine, familial hemiplegic, 3, Early infantile epileptic encephalopathy with suppression bursts | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166900522
- GRCh38:
- Chr2:166044012
| SCN1A | R566T, R567T | Developmental and epileptic encephalopathy 6B | Uncertain significance
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166901747
- GRCh38:
- Chr2:166045237
| SCN1A | S489R, S490R | Developmental and epileptic encephalopathy 6B | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166894642
- GRCh38:
- Chr2:166038132
| SCN1A | L50M, L835M, L836M, L852M, L853M, L864M | not provided, Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy 6B
| Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166866342
- GRCh38:
- Chr2:166009832
| LOC102724058, SCN1A | V1268I, V1269I, V1285I, V1286I, V1297I, V483I | Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy,
not provided, Early infantile epileptic encephalopathy with suppression bursts | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166903393
- GRCh38:
- Chr2:166046883
| SCN1A | | Developmental and epileptic encephalopathy 6B | Pathogenic
(May 17, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:166896045
- GRCh38:
- Chr2:166039535
| SCN1A | Y12C, Y797C, Y798C, Y814C, Y815C, Y826C | Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy,
Migraine, familial hemiplegic, 3, Generalized epilepsy with febrile seizures plus, type 2 | Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166908354
- GRCh38:
- Chr2:166051844
| SCN1A | W280* | Generalized epilepsy with febrile seizures plus, type 2, Migraine, familial hemiplegic, 3, Developmental and epileptic encephalopathy 6B,
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Early infantile epileptic encephalopathy with suppression bursts
| Pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166872189
- GRCh38:
- Chr2:166015679
| LOC102724058, SCN1A | G1148S, G1131S, G1160S, G1132S, G1149S, G346S | Migraine, familial hemiplegic, 3, Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy,
Generalized epilepsy with febrile seizures plus, type 2, Early infantile epileptic encephalopathy with suppression bursts | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166848693
- GRCh38:
- Chr2:165992183
| LOC102724058, SCN1A | E1670K, E1686K, E1698K, E884K, E1687K, E1669K | Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy, Migraine, familial hemiplegic, 3,
Generalized epilepsy with febrile seizures plus, type 2, Early infantile epileptic encephalopathy with suppression bursts | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166908307
- GRCh38:
- Chr2:166051797
| SCN1A | I296V | Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy, Migraine, familial hemiplegic, 3,
Generalized epilepsy with febrile seizures plus, type 2, Early infantile epileptic encephalopathy with suppression bursts | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166859233
- GRCh38:
- Chr2:166002723
| LOC102724058, SCN1A | P1316S, P1345S, P1317S, P1333S, P1334S, P531S | Early infantile epileptic encephalopathy with suppression bursts | Likely pathogenic
(Dec 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:166903314
- GRCh38:
- Chr2:166046804
| SCN1A | I448T | not provided, Generalized epilepsy with febrile seizures plus, type 2, Early infantile epileptic encephalopathy with suppression bursts,
Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2,
Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2,
Developmental and epileptic encephalopathy 6B | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166903303
- GRCh38:
- Chr2:166046793
| SCN1A | K452* | not provided, Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy,
Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B | Pathogenic
(Jul 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166859032
- GRCh38:
- Chr2:166002522
| LOC102724058, SCN1A | K1401E, K1412E, K1383E, K598E, K1400E, K1384E | Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2,
Developmental and epileptic encephalopathy 6B, Early infantile epileptic encephalopathy with suppression bursts | Uncertain significance
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166911208
- GRCh38:
- Chr2:166054698
| SCN1A | E181G | Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy,
Migraine, familial hemiplegic, 3, Early infantile epileptic encephalopathy with suppression bursts | Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166900419
- GRCh38:
- Chr2:166043909
| SCN1A | | not provided, Early infantile epileptic encephalopathy with suppression bursts, Migraine, familial hemiplegic, 3,
Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B,
Migraine, familial hemiplegic, 3, Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy
| Conflicting interpretations of pathogenicity
(May 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166911184
- GRCh38:
- Chr2:166054674
| SCN1A | P189fs | Developmental and epileptic encephalopathy 6B, Early infantile epileptic encephalopathy with suppression bursts | Pathogenic/Likely pathogenic
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166848568
- GRCh38:
- Chr2:165992058
| LOC102724058, SCN1A | | not provided, Migraine, familial hemiplegic, 3, Generalized epilepsy with febrile seizures plus, type 2,
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Migraine, familial hemiplegic, 3,
Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy, Inborn genetic diseases,
Early infantile epileptic encephalopathy with suppression bursts | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166854548
- GRCh38:
- Chr2:165998038
| LOC102724058, SCN1A | | Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy, not provided,
Early infantile epileptic encephalopathy with suppression bursts | Likely pathogenic
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166847934
- GRCh38:
- Chr2:165991424
| LOC102724058, SCN1A | A1940S, A1951S, A1923S, A1137S, A1922S, A1939S | Early infantile epileptic encephalopathy with suppression bursts, not provided, Migraine, familial hemiplegic, 3,
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B
| Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166897989-166897990
- GRCh38:
- Chr2:166041479-166041480
| SCN1A | | Familial hemiplegic migraine, not provided, Epilepsy,
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Migraine, familial hemiplegic, 3,
Generalized epilepsy with febrile seizures plus, type 2 | Benign
(Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166903398
- GRCh38:
- Chr2:166046888
| SCN1A | A420D | Developmental and epileptic encephalopathy 6B, not provided | Conflicting interpretations of pathogenicity
(Aug 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166908486
- GRCh38:
- Chr2:166051976
| SCN1A | I236T | Developmental and epileptic encephalopathy 6B, not provided | Conflicting interpretations of pathogenicity
(Sep 8, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166900520
- GRCh38:
- Chr2:166044010
| SCN1A | R568*, R567* | Early infantile epileptic encephalopathy with suppression bursts, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2,
Migraine, familial hemiplegic, 3, not provided, Migraine, familial hemiplegic, 3,
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2,
Migraine, familial hemiplegic, 3 | Pathogenic
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166911140-166911141
- GRCh38:
- Chr2:166054630-166054631
| SCN1A | | Early infantile epileptic encephalopathy with suppression bursts, not specified, Severe myoclonic epilepsy in infancy,
Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B, Migraine, familial hemiplegic, 3
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166929991
- GRCh38:
- Chr2:166073481
| SCN1A | N47fs | not provided, Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy,
Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2 | Pathogenic
(Oct 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166848284
- GRCh38:
- Chr2:165991774
| LOC102724058, SCN1A | A1823V, A1834V, A1806V, A1822V, A1020V, A1805V | not provided, Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy,
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B
| Conflicting interpretations of pathogenicity
(Mar 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166930050
- GRCh38:
- Chr2:166073540
| SCN1A | R28C | Generalized epilepsy with febrile seizures plus, type 2, Early infantile epileptic encephalopathy with suppression bursts, not provided,
Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B,
Generalized epilepsy with febrile seizures plus, type 2 | Conflicting interpretations of pathogenicity
(May 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:166892889
- GRCh38:
- Chr2:166036379
| LOC102724058, SCN1A | F1022S, F1033S, F1021S, F219S, F1004S, F1005S | Early infantile epileptic encephalopathy with suppression bursts, not provided, Migraine, familial hemiplegic, 3,
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B
| Uncertain significance
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166870242
- GRCh38:
- Chr2:166013732
| LOC102724058, SCN1A | | not specified, Early infantile epileptic encephalopathy with suppression bursts, Migraine, familial hemiplegic, 3,
Generalized epilepsy with febrile seizures plus, type 2, not provided, Migraine, familial hemiplegic, 3,
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2
| Benign/Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166911147
- GRCh38:
- Chr2:166054637
| SCN1A | | Early infantile epileptic encephalopathy with suppression bursts, Generalized epilepsy with febrile seizures plus, type 2, Migraine, familial hemiplegic, 3,
Severe myoclonic epilepsy in infancy, not provided, Generalized epilepsy with febrile seizures plus, type 2,
Severe myoclonic epilepsy in infancy, Focal impaired awareness seizure, Generalized epilepsy with febrile seizures plus, type 2,
Migraine, familial hemiplegic, 3, Developmental and epileptic encephalopathy 6BSevere myoclonic epilepsy in infancy,
...see more | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166895930
- GRCh38:
- Chr2:166039420
| SCN1A | | Early infantile epileptic encephalopathy with suppression bursts, not provided, Severe myoclonic epilepsy in infancy,
Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B,
Generalized epilepsy with febrile seizures plus, type 2 | Pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166848111
- GRCh38:
- Chr2:165991601
| LOC102724058, SCN1A | R1881*, R1892*, R1078*, R1880*, R1863*, R1864* | Early infantile epileptic encephalopathy with suppression bursts, not provided, Generalized epilepsy with febrile seizures plus, type 2,
Severe myoclonic epilepsy in infancy, Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy,
Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2 | Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166848246-166848249
- GRCh38:
- Chr2:165991736-165991739
| LOC102724058, SCN1A | K1032fs, K1818fs, K1846fs, K1835fs, K1817fs, K1834fs | Inborn genetic diseases, Developmental and epileptic encephalopathy 6B, Early infantile epileptic encephalopathy with suppression bursts,
not provided, Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy
| Pathogenic
(Jun 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166848879
- GRCh38:
- Chr2:165992369
| LOC102724058, SCN1A | R1625*, R1636*, R1607*, R1624*, R822*, R1608* | Early infantile epileptic encephalopathy with suppression bursts, not provided, Severe myoclonic epilepsy in infancy,
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2
| Pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166868765
- GRCh38:
- Chr2:166012255
| LOC102724058, SCN1A | R1234*, R1245*, R1216*, R1233*, R1217*, R431* | Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts, not provided,
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy,
Migraine, familial hemiplegic, 3, Generalized epilepsy with febrile seizures plus, type 2 | Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166909379
- GRCh38:
- Chr2:166052869
| SCN1A | T226M | Developmental and epileptic encephalopathy, 6, Early infantile epileptic encephalopathy with suppression bursts, Generalized epilepsy with febrile seizures plus, type 2,
Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, not provided,
Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy | Pathogenic
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166848438
- GRCh38:
- Chr2:165991928
| LOC102724058, SCN1A | A1772T, A1783T, A1755T, A1771T, A969T, A1754T | not provided, Generalized epilepsy with febrile seizures plus, type 2, Severe myoclonic epilepsy in infancy,
Developmental and epileptic encephalopathy 6B, Migraine, familial hemiplegic, 3, Developmental and epileptic encephalopathy 6B,
Early infantile epileptic encephalopathy with suppression bursts, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2
| Pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166903480
- GRCh38:
- Chr2:166046970
| SCN1A | R393C | not provided, Early infantile epileptic encephalopathy with suppression bursts, Severe myoclonic epilepsy in infancy,
Intellectual disability, mild, Seizure, Generalized epilepsy with febrile seizures plus, type 2,
Developmental and epileptic encephalopathy 6B, Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy
| Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |