"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 530419	NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)	LOC102724058, SCN1A (A1938V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
Select item 870749	NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys)	LOC102724058, SCN1A (N1083K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 982640	NM_001165963.4(SCN1A):c.5653C>G (p.Leu1885Val)	LOC102724058, SCN1A (L1071V +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1342897	NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs)	LOC102724058, SCN1A (I1053fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1679126	NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro)	LOC102724058, SCN1A (L1051P +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
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 572287	NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)	LOC102724058, SCN1A (M1812T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 976242	NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)	LOC102724058, SCN1A	Deletion (nonsense +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 189914	NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)	LOC102724058, SCN1A (F857fs +5 more)	Deletion (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 1878549	NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)	LOC102724058, SCN1A (Y1616* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +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)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1018634	NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp)	LOC102724058, SCN1A (Y1570D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 68553	NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	LOC102724058, SCN1A (R1585C +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 1804118	NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)	LOC102724058, SCN1A (I1564N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 93655	NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2430247	NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)	SCN1A, LOC102724058 (D1515N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 496120	NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)	LOC102724058, SCN1A (V1527I +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 975975	NM_001165963.4(SCN1A):c.4581+18A>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1285509	NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn)	LOC102724058, SCN1A (D1468N +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 976397	NM_001165963.4(SCN1A):c.4417T>C (p.Phe1473Leu)	SCN1A, LOC102724058 (F1444L +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
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 1329953	NM_001165963.4(SCN1A):c.4338+5G>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 929502	NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	LOC102724058, SCN1A (V1413F +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GConflicting classifications of pathogenicity
Select item 1697316	NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)	LOC102724058, SCN1A (A1411T +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 68631	NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)	LOC102724058, SCN1A (W1423R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GPathogenic
Select item 983104	NM_001165963.4(SCN1A):c.4284+4A>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 893618	NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln)	LOC102724058, SCN1A (R1379Q +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +2 more	GUncertain significance
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 975944	NM_001165963.4(SCN1A):c.4002+1G>T	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 206816	NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	LOC102724058, SCN1A (R1318* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 2576599	NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)	LOC102724058, SCN1A (L1292fs +5 more)	Microsatellite (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1338795	NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)	LOC102724058, SCN1A (V1268fs +5 more)	Duplication (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1285591	NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)	LOC102724058, SCN1A (D1259Y +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 189933	NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)	LOC102724058, SCN1A (A1225P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 189902	NM_001165963.4(SCN1A):c.3705+1G>A	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GPathogenic
Select item 976067	NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro)	SCN1A, LOC102724058 (L1200P +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 189861	NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	LOC102724058, SCN1A (R1202* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 68616	NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	LOC102724058, SCN1A (T1163S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +11 more	GConflicting classifications of pathogenicity
Select item 873449	NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)	SCN1A (L178P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1697304	NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys)	SCN1A (F158C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 206788	NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)	SCN1A (V936M +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 873435	NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)	SCN1A (F875V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 452271	NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)	SCN1A (A878T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 12883	NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	SCN1A (T875M +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure +5 more	GPathogenic/Likely pathogenic
Select item 189938	NM_001165963.4(SCN1A):c.2589+3A>T	SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic
Select item 189917	NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)	SCN1A (M774V +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
Select item 189886	NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	SCN1A (R701* +4 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GPathogenic
Select item 189892	NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	SCN1A (R580* +1 more)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic
Select item 1285480	NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs)	SCN1A (K546fs +1 more)	Deletion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 189848	NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)	SCN1A (R542* +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +4 more	GPathogenic
Select item 1325851	NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs)	SCN1A (S489fs +1 more)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1297050	NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)	SCN1A (N416S)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 68506	NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	SCN1A (R393H)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic/Likely pathogenic
Select item 1697302	NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs)	SCN1A (G361fs)	Deletion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 189864	NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)	SCN1A (N359S)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
Select item 976200	NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)	SCN1A (P358A)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 976439	NM_001165963.4(SCN1A):c.986del (p.Gly329fs)	SCN1A (G329fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 206933	NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)	SCN1A (G329C)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 189993	NM_001165963.4(SCN1A):c.965-1G>A	SCN1A	Single nucleotide variant (splice acceptor variant)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic/Likely pathogenic
Select item 976292	NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser)	SCN1A (P281S)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 976137	NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys)	SCN1A (I278K)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 68581	NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)	SCN1A (A239V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 68578	NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SCN1A (T226M)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B +6 more	GPathogenic
Select item 12889	NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SCN1A (R222*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 206745	NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)	SCN1A (L221P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 982639	NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)	SCN1A (G210D)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GLikely pathogenic
Select item 2430262	NM_001165963.4(SCN1A):c.603-3C>G	SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 68575	NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	SCN1A (D194N)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 975943	NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)	SCN1A (T162I)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 423370	NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro)	SCN1A (L117P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68527	NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	SCN1A (R101W)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic/Likely pathogenic
Select item 217242	NM_001165963.4(SCN1A):c.264+5G>A	SCN1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic/Likely pathogenic
Select item 217241	NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)	SCN1A (Y83*)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
Select item 2692373	NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)	SCN1A (G58V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1330194	GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1	CSRNP3, GALNT3 +6 more	Copy number loss	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1285579	NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del	SCN1A	Deletion	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic

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Items: 76