ClinVar for MedGen (Select 1779648) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063577	NM_001165963.4(SCN1A):c.4880A>T (p.Lys1627Met)	LOC102724058, SCN1A (K1598M +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 3024319	NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)	SCN1A (Q429K)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3024230	NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)	SCN1A (D81N)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 2637971	NM_001165963.4(SCN1A):c.3824G>T (p.Gly1275Val)	LOC102724058, SCN1A (G1246V +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	Gnot provided
Select item 2585309	NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg)	LOC102724058, SCN1A (L1561R +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GUncertain significance
Select item 2585306	NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)	LOC102724058, SCN1A (W1715R +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2584799	NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)	LOC102724058, SCN1A (Y1432* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2583178	NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)	SCN1A (M120L +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2580979	NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser)	LOC102724058, SCN1A (A1005S +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GUncertain significance
Select item 2505357	NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)	LOC102724058, SCN1A (Y1431C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GLikely pathogenic
Select item 2500082	NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)	LOC102724058, SCN1A (D1726N +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GUncertain significance
Select item 2446437	NM_001165963.4(SCN1A):c.1171-1G>A	SCN1A	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2430163	NM_001165963.4(SCN1A):c.2589+2dup	SCN1A	Duplication (splice donor variant)	Severe myoclonic epilepsy in infancy +3 more	GLikely pathogenic
Select item 2430162	NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)	LOC102724058, SCN1A (L1236M +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2430161	NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)	LOC102724058, SCN1A (M1304I +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2430160	NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)	LOC102724058, SCN1A (V1738F +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 1792336	NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu)	SCN1A (D807E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1711850	NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter)	LOC102724058, SCN1A (E1012* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy 6B	GPathogenic
Select item 1710254	NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)	SCN1A (W138L +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 1707542	NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)	LOC102724058, SCN1A (V1435L +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GBenign
Select item 1683549	NM_001165963.4(SCN1A):c.1303del (p.Glu435fs)	SCN1A (E435fs)	Deletion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy +2 more	GPathogenic/Likely pathogenic
Select item 1679753	NM_001165963.4(SCN1A):c.-142G>A	SCN1A	Single nucleotide variant (splice acceptor variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GUncertain significance
Select item 1517729	NM_001165963.4(SCN1A):c.5851G>C (p.Ala1951Pro)	LOC102724058, SCN1A (A1137P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1492924	NM_001165963.4(SCN1A):c.2415+9A>G	SCN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Severe myoclonic epilepsy in infancy +4 more	GLikely benign
Select item 1486728	NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile)	SCN1A (T660I +1 more)	Single nucleotide variant (missense variant +3 more)	Developmental and epileptic encephalopathy 6B +1 more	GConflicting classifications of pathogenicity
Select item 1418113	NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)	SCN1A (G271S)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +4 more	GPathogenic/Likely pathogenic
Select item 1361552	NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp)	LOC102724058, SCN1A (Y1431D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1359475	NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)	SCN1A (A485G +1 more)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +4 more	GConflicting classifications of pathogenicity
Select item 1334789	NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr)	SCN1A (R566T +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B	GUncertain significance
Select item 1333270	NM_001165963.4(SCN1A):c.1468A>C (p.Ser490Arg)	SCN1A (S489R +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B	GUncertain significance
Select item 1320315	NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met)	SCN1A (L50M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1217508	NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)	LOC102724058, SCN1A (V1268I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +4 more	GConflicting classifications of pathogenicity
Select item 1098587	NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu)	SCN1A	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B	GPathogenic
Select item 1062030	NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro)	SCN1A (L478P +1 more)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 1057080	NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)	SCN1A (L390P)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +4 more	GPathogenic/Likely pathogenic
Select item 1007573	NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys)	SCN1A (Y12C +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +4 more	GUncertain significance
Select item 960282	NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	SCN1A (W280*)	Single nucleotide variant (nonsense +2 more)	Migraine, familial hemiplegic, 3 +4 more	GPathogenic
Select item 957895	NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)	LOC102724058, SCN1A (G1148S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 839613	NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys)	LOC102724058, SCN1A (E1670K +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GUncertain significance
Select item 839612	NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)	SCN1A (I296V)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 657600	NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)	LOC102724058, SCN1A (P1316S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 626009	NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)	SCN1A (I448T)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GUncertain significance
Select item 620251	NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)	SCN1A (K452*)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic
Select item 575324	NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu)	LOC102724058, SCN1A (K1401E +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +4 more	GUncertain significance
Select item 568871	NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly)	SCN1A (E181G)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GUncertain significance
Select item 530625	NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)	SCN1A	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 461282	NM_001165963.4(SCN1A):c.566del (p.Pro189fs)	SCN1A (P189fs)	Deletion (frameshift variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
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 426654	NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 423837	NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser)	LOC102724058, SCN1A (A1940S +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +5 more	GUncertain significance
Select item 421777	NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr)	LOC102724058, SCN1A (M1256T +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +1 more	GConflicting classifications of pathogenicity
Select item 331890	NM_001165963.4(SCN1A):c.2177-11dup	SCN1A	Duplication (intron variant)	not specified +7 more	GBenign
Select item 283002	NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp)	SCN1A (A420D)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B +1 more	GConflicting classifications of pathogenicity
Select item 280823	NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs)	SCN1A (F256fs)	Microsatellite (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 265308	NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)	SCN1A (I236T)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B +1 more	GConflicting classifications of pathogenicity
Select item 265254	NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	SCN1A (R568* +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +6 more	GPathogenic
Select item 257623	NM_001165963.4(SCN1A):c.602+6_602+7dup	SCN1A	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GBenign/Likely benign
Select item 206914	NM_001165963.4(SCN1A):c.141del (p.Asn47fs)	SCN1A (N47fs)	Deletion (frameshift variant +2 more)	not provided +4 more	GPathogenic
Select item 206867	NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)	LOC102724058, SCN1A (A1823V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GConflicting classifications of pathogenicity
Select item 206802	NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	SCN1A (R28C)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +5 more	GConflicting classifications of pathogenicity
Select item 206796	NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser)	LOC102724058, SCN1A (F1022S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy 6B +5 more	GUncertain significance
Select item 206795	NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)	SCN1A (D987E +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +3 more	GConflicting classifications of pathogenicity
Select item 206729	NM_001165963.4(SCN1A):c.3705+12T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 76 +7 more	GPathogenic
Select item 189938	NM_001165963.4(SCN1A):c.2589+3A>T	SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GPathogenic
Select item 189896	NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	LOC102724058, SCN1A (R1881* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GPathogenic
Select item 189881	NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	LOC102724058, SCN1A (K1032fs +5 more)	Microsatellite (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +6 more	GPathogenic
Select item 189870	NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	LOC102724058, SCN1A (R1625* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GPathogenic
Select item 167639	NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	LOC102724058, SCN1A (R1234* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +6 more	GPathogenic
Select item 68578	NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SCN1A (T226M)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +6 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)	not provided +5 more	GPathogenic
Select item 68523	NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)	SCN1A (R935H +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +6 more	GPathogenic/Likely pathogenic
Select item 68505	NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A (R393C)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +7 more	GPathogenic
Select item 12896	NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	SCN1A (M145T)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +4 more	GPathogenic

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Items: 74