"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "LOC1027240 - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1313918	NM_001165963.4(SCN1A):c.5877_5879del (p.Met1959del)	LOC102724058, SCN1A (M1145del +5 more)	Deletion (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 2584795	NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)	LOC102724058, SCN1A (F1859fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1339028	NM_001165963.4(SCN1A):c.5354T>C (p.Ile1785Thr)	LOC102724058, SCN1A (I1756T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1878554	NM_001165963.4(SCN1A):c.5226C>A (p.Asp1742Glu)	LOC102724058, SCN1A (D1713E +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	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 93656	NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)	LOC102724058, SCN1A (M1703T +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GConflicting classifications of pathogenicity
Select item 2627530	NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)	LOC102724058, SCN1A (P1639L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 68558	NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	LOC102724058, SCN1A (R1634Q +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +5 more	GPathogenic
Select item 1878566	NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer)	LOC102724058, SCN1A	Indel (nonsense +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 68557	NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	LOC102724058, SCN1A (R1625Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1878549	NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)	LOC102724058, SCN1A (Y1616* +5 more)	Single nucleotide variant (nonsense +1 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
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 206837	NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	LOC102724058, SCN1A (S1505* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 530456	NM_001165963.4(SCN1A):c.4477-1C>T	LOC102724058, SCN1A	Single nucleotide variant (splice acceptor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1174587	NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)	LOC102724058, SCN1A (N1447T +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76 +1 more	GConflicting classifications of pathogenicity
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 1361552	NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp)	LOC102724058, SCN1A (Y1431D +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +1 more	GUncertain significance
Select item 801795	NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)	LOC102724058, SCN1A (D1415N +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GConflicting classifications of pathogenicity
Select item 2664188	NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)	LOC102724058, SCN1A (Y1345* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 838141	NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)	LOC102724058, SCN1A (V1321M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 946012	NM_001165963.4(SCN1A):c.3879+5G>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2627518	NM_001165963.4(SCN1A):c.3776T>A (p.Phe1259Tyr)	LOC102724058, SCN1A (F1230Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 2581808	NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)	LOC102724058, SCN1A (G1204S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 801801	NM_001165963.4(SCN1A):c.3429+1G>T	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 969945	NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr)	LOC102724058, SCN1A (S1081T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GUncertain significance
Select item 955648	NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)	LOC102724058, SCN1A (K1058fs +5 more)	Microsatellite (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
Select item 588233	NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro)	LOC102724058, SCN1A (L1040P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy 6B +2 more	GConflicting classifications of pathogenicity
Select item 3242014	NM_001165963.4(SCN1A):c.3094G>A (p.Glu1032Lys)	LOC102724058, SCN1A (E1003K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance

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Items: 29