"Ambry Genetics"[submitter] AND "SCN1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588859	NM_001165963.4(SCN1A):c.5995C>T (p.Gln1999Ter)	LOC102724058, SCN1A (Q1988* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 93661	NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	LOC102724058, SCN1A (P1973H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 1750637	NM_001165963.4(SCN1A):c.5944T>C (p.Cys1982Arg)	LOC102724058, SCN1A (C1953R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 206885	NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)	LOC102724058, SCN1A (E1960G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 425223	NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile)	LOC102724058, SCN1A (M1948I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 93660	NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)	LOC102724058, SCN1A (I1944T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
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 449673	NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys)	LOC102724058, SCN1A (Y1915C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 650943	NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln)	LOC102724058, SCN1A (R1883Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 936981	NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg)	LOC102724058, SCN1A (M1075R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 706670	NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 206875	NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)	LOC102724058, SCN1A (G1869E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 940921	NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)	LOC102724058, SCN1A (E1849D +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 6 +3 more	GUncertain significance
Select item 1748495	NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser)	LOC102724058, SCN1A (C1836S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 421612	NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)	LOC102724058, SCN1A (R1850Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206871	NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)	LOC102724058, SCN1A (M1845I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 1022409	NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val)	LOC102724058, SCN1A (L1033V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 189881	NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	LOC102724058, SCN1A (K1032fs +5 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +6 more	GPathogenic
Select item 1026221	NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro)	LOC102724058, SCN1A (Q1016P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1453512	NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter)	LOC102724058, SCN1A (K1798* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 638827	NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn)	LOC102724058, SCN1A (D1790N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 93657	NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 1383663	NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)	LOC102724058, SCN1A (E1802K +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GUncertain significance
Select item 836877	NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1746784	NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met)	LOC102724058, SCN1A (I1772M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 265303	NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys)	LOC102724058, SCN1A (Y1758C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 195943	NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 530555	NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 206861	NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)	LOC102724058, SCN1A (D1729N +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 461281	NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1745814	NM_001165963.4(SCN1A):c.5174_5179del (p.Gly1725_Trp1726del)	LOC102724058, SCN1A	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 206943	NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)	LOC102724058, SCN1A (G1700S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1078880	NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 190011	NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)	LOC102724058, SCN1A (A1651V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 195942	NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
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 379180	NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
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 496121	NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 130207	NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 138986	NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GConflicting classifications of pathogenicity
Select item 1551191	NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1074453	NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)	LOC102724058, SCN1A (I1587T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 206850	NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe)	LOC102724058, SCN1A (Y1587F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 388529	NM_001165963.4(SCN1A):c.4791T>C (p.His1597=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GLikely benign
Select item 93655	NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 590067	NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 572354	NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn)	LOC102724058, SCN1A (S1555N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 496120	NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)	LOC102724058, SCN1A (V1527I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 589466	NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln)	LOC102724058, SCN1A (R1514Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 206840	NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)	LOC102724058, SCN1A (P1513T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 138985	NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 206839	NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)	LOC102724058, SCN1A (P1508L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 206838	NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)	LOC102724058, SCN1A (P1508T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 331883	NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 1187175	NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg)	LOC102724058, SCN1A (K1488R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 138984	NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 1188345	NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter)	LOC102724058, SCN1A (Y1478* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 208781	NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter)	LOC102724058, SCN1A (Y1496* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 589001	NM_001165963.4(SCN1A):c.4450_4453del (p.Asp1484fs)	LOC102724058, SCN1A (D1456fs +5 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 138982	NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)	LOC102724058, SCN1A (I1454V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1740236	NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala)	LOC102724058, SCN1A (V1435A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589810	NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His)	LOC102724058, SCN1A (Y1451H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 588706	NM_001165963.4(SCN1A):c.4338+1G>C	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1739753	NM_001165963.4(SCN1A):c.4329T>C (p.Asp1443=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1739737	NM_001165963.4(SCN1A):c.4327G>C (p.Asp1443His)	LOC102724058, SCN1A (D1414H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
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 206730	NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 589796	NM_001165963.4(SCN1A):c.4301G>A (p.Trp1434Ter)	LOC102724058, SCN1A (W1423* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 954874	NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu)	LOC102724058, SCN1A (K1403E +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 206821	NM_001165963.4(SCN1A):c.4285-4A>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 986202	NM_001165963.4(SCN1A):c.4250A>T (p.Asn1417Ile)	LOC102724058, SCN1A (N1388I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 93649	NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	LOC102724058, SCN1A (R1396* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 449638	NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)	LOC102724058, SCN1A (N1380H +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related conditions +3 more	GConflicting classifications of pathogenicity
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 378516	NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 206820	NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)	LOC102724058, SCN1A (E1377K +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 530563	NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1738288	NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys)	LOC102724058, SCN1A (F1356C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 287064	NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)	LOC102724058, SCN1A (I1366V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1737768	NM_001165963.4(SCN1A):c.4093G>T (p.Gly1365Cys)	LOC102724058, SCN1A (G1353C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 208778	NM_001165963.4(SCN1A):c.4013A>C (p.Asn1338Thr)	LOC102724058, SCN1A (N1327T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 206816	NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	LOC102724058, SCN1A (R1318* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 6 +4 more	GPathogenic
Select item 383819	NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)	LOC102724058, SCN1A (P1312H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 138980	NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
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 206812	NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)	LOC102724058, SCN1A (T1289I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 138979	NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 852276	NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe)	LOC102724058, SCN1A (Y1248F +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1735182	NM_001165963.4(SCN1A):c.3813G>A (p.Trp1271Ter)	LOC102724058, SCN1A (W1260* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 93646	NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 93645	NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)	LOC102724058, SCN1A (F1248S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206807	NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)	LOC102724058, SCN1A (T1239M +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related condition +5 more	GBenign/Likely benign
Select item 167639	NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	LOC102724058, SCN1A (R1234* +5 more)	Single nucleotide variant (nonsense +1 more)	Migraine, familial hemiplegic, 3 +6 more	GPathogenic
Select item 643952	NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del)	LOC102724058, SCN1A	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1117389	NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 36754	NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 1041933	NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr)	LOC102724058, SCN1A (I1211T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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