| | LOC102724058, SCN1A (G1920S +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (W1175R +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (E1558K +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (Q1109R +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (R1113G +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (Q1460H +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (M1471V +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (M1238I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (L1641W +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (L1620Q +5 more) | Indel (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (I1469M +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (I1756S +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (F1632L +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (F1386I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (A1695P +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (I1068S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (F1194C +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (Q1137fs +5 more) | Deletion (non-coding transcript variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | | Indel (inframe_indel +2 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (K1598M +5 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy 6B | |
| | LOC102724058, SCN1A (R1619S +5 more) | Single nucleotide variant (missense variant +1 more) | SCN1A-related condition | |
| | LOC102724058, SCN1A (T1781I +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (G273E +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (L1082P +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (C1342G +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (E1436K +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (S1202N +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (D1424N +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (D1958N +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (F1666L +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (V1085M +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (C1179Y +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (F1745S +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (P1024L +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (K1815fs +5 more) | Deletion (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (G1170D +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (S1873P +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (V1688A +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (R1639fs +5 more) | Deletion (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (S1738N +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (D572N +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (V1382A +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (A1254G +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (N1643* +5 more) | Duplication (nonsense +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (W1784L +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (A1791T +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (G1743A +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (I1235T +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (Q1491fs +5 more) | Deletion (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (A304S +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (S1949F +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (F1502L +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (K678* +5 more) | Single nucleotide variant (nonsense +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts | |