"UniProtKB/Swiss-Prot"[submitter] AND "SCN1A"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 193

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68671	NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	LOC102724058, SCN1A (E1946G +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GConflicting classifications of pathogenicity
Select item 68574	NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)	LOC102724058, SCN1A (R1917G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 68573	NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)	LOC102724058, SCN1A (I1911T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68669	NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)	LOC102724058, SCN1A (T1898I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 68667	NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp)	LOC102724058, SCN1A (E1870D +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68666	NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr)	LOC102724058, SCN1A (D1855Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	Gnot provided
Select item 68665	NM_001165963.4(SCN1A):c.5569G>T (p.Val1857Leu)	LOC102724058, SCN1A (V1846L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68664	NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)	LOC102724058, SCN1A (M1841T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 68663	NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser)	LOC102724058, SCN1A (F1820S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68662	NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)	LOC102724058, SCN1A (W1801G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 68661	NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)	LOC102724058, SCN1A (F1797L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 68660	NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	LOC102724058, SCN1A (E1784K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +4 more	GConflicting classifications of pathogenicity
Select item 68572	NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys)	LOC102724058, SCN1A (E1776K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68571	NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)	LOC102724058, SCN1A (A1772V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 68570	NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	LOC102724058, SCN1A (A1772T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GPathogenic
Select item 68659	NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)	LOC102724058, SCN1A (I1771M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 68657	NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)	LOC102724058, SCN1A (Y1770C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68569	NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)	LOC102724058, SCN1A (M1769T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68568	NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)	LOC102724058, SCN1A (S1762F +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68567	NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)	LOC102724058, SCN1A (G1751E +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 68655	NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly)	LOC102724058, SCN1A (C1745G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68654	NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu)	LOC102724058, SCN1A (G1738E +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68653	NM_001165963.4(SCN1A):c.5225A>G (p.Asp1742Gly)	LOC102724058, SCN1A (D1731G +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68848	NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg)	LOC102724058, SCN1A (W1715R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68566	NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg)	LOC102724058, SCN1A (T1710R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68565	NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)	LOC102724058, SCN1A (C1705R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 68564	NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)	LOC102724058, SCN1A (M1703R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68651	NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn)	LOC102724058, SCN1A (S1702N +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 12894	NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)	LOC102724058, SCN1A (T1709I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 68563	NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val)	LOC102724058, SCN1A (F1696V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 68650	NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)	LOC102724058, SCN1A (Y1683C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 68649	NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)	LOC102724058, SCN1A (F1681S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GLikely pathogenic
Select item 68562	NM_001165963.4(SCN1A):c.5060T>C (p.Phe1687Ser)	LOC102724058, SCN1A (F1676S +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1	Gnot provided
Select item 68648	NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)	LOC102724058, SCN1A (A1674V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68647	NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)	LOC102724058, SCN1A (A1674D +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68646	NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg)	LOC102724058, SCN1A (G1663R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68561	NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala)	LOC102724058, SCN1A (P1657A +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68645	NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys)	LOC102724058, SCN1A (M1653K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68644	NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)	LOC102724058, SCN1A (F1650S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68643	NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)	LOC102724058, SCN1A (T1647M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 68560	NM_001165963.4(SCN1A):c.4973C>G (p.Thr1658Arg)	LOC102724058, SCN1A (T1647R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68559	NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)	LOC102724058, SCN1A (R1646H +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68642	NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)	LOC102724058, SCN1A (R1646C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 12886	NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)	LOC102724058, SCN1A (I1656M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 12882	NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)	LOC102724058, SCN1A (R1648H +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy +2 more	GPathogenic
Select item 68641	NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)	LOC102724058, SCN1A (R1637C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 68558	NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	LOC102724058, SCN1A (R1634Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic
Select item 68640	NM_001165963.4(SCN1A):c.4910T>A (p.Val1637Glu)	LOC102724058, SCN1A (V1626E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68557	NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	LOC102724058, SCN1A (R1625Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 68639	NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)	LOC102724058, SCN1A (P1621S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68556	NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)	LOC102724058, SCN1A (V1619M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
Select item 68638	NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	LOC102724058, SCN1A (V1601I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +13 more	GConflicting classifications of pathogenicity
Select item 12895	NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)	LOC102724058, SCN1A (V1611F +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic
Select item 68554	NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)	LOC102724058, SCN1A (D1597Y +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic/Likely pathogenic
Select item 68553	NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	LOC102724058, SCN1A (R1585C +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy +4 more	GPathogenic/Likely pathogenic
Select item 68552	NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)	LOC102724058, SCN1A (C1577R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68637	NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)	LOC102724058, SCN1A (G1575E +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 68636	NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	LOC102724058, SCN1A (R1564C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 68551	NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	LOC102724058, SCN1A (I1534V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic
Select item 68550	NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)	LOC102724058, SCN1A (F1532S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GUncertain significance
Select item 68635	NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)	LOC102724058, SCN1A (L1503S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 12902	NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	LOC102724058, SCN1A (F1499L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 12903	NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)	LOC102724058, SCN1A (Q1489H +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 12893	NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	LOC102724058, SCN1A (Q1489K +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 68549	NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)	LOC102724058, SCN1A (G1469V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68548	NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser)	LOC102724058, SCN1A (L1464S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68547	NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp)	LOC102724058, SCN1A (G1459W +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68546	NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser)	LOC102724058, SCN1A (F1452S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68545	NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys)	LOC102724058, SCN1A (Y1451C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68634	NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile)	LOC102724058, SCN1A (L1450I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68544	NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)	LOC102724058, SCN1A (P1440L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 68633	NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg)	LOC102724058, SCN1A (Q1439R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68632	NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys)	LOC102724058, SCN1A (Q1439K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68543	NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)	LOC102724058, SCN1A (A1430P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 68631	NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)	LOC102724058, SCN1A (W1423R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 68630	NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)	LOC102724058, SCN1A (G1422E +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 68542	NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg)	LOC102724058, SCN1A (G1422R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 12892	NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala)	LOC102724058, SCN1A (V1428A +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 68541	NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg)	LOC102724058, SCN1A (L1415R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68540	NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)	LOC102724058, SCN1A (Y1411C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68539	NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr)	LOC102724058, SCN1A (N1403Y +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68538	NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)	LOC102724058, SCN1A (C1385G +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68537	NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)	LOC102724058, SCN1A (V1379M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 68629	NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys)	LOC102724058, SCN1A (N1356K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68628	NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)	LOC102724058, SCN1A (V1355I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 68536	NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser)	LOC102724058, SCN1A (W1347S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68627	NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro)	LOC102724058, SCN1A (L1344P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 12885	NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)	LOC102724058, SCN1A (V1353L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 68535	NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)	LOC102724058, SCN1A (V1324M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 68626	NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro)	LOC102724058, SCN1A (A1315P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68625	NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)	LOC102724058, SCN1A (L1298F +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 68534	NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	LOC102724058, SCN1A (E1297D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 68624	NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)	LOC102724058, SCN1A (L1276P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 12891	NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)	LOC102724058, SCN1A (K1270T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 68623	NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro)	LOC102724058, SCN1A (L1254P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68622	NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu)	LOC102724058, SCN1A (F1252L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 68621	NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)	LOC102724058, SCN1A (T1249P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 68533	NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	LOC102724058, SCN1A (R1234Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68532	NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)	LOC102724058, SCN1A (E1227D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 68531	NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)	LOC102724058, SCN1A (G1222R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic

<< First< Prev

Page of 2