"Centre for Inherited Metabolic Diseases, Karolinska University Hospit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1065176	NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)	LOC102724058, SCN1A (I1741F +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 665201	NM_001165963.4(SCN1A):c.4801A>G (p.Thr1601Ala)	LOC102724058, SCN1A (T1573A +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 189976	NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)	LOC102724058, SCN1A (S1460F +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 206811	NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)	LOC102724058, SCN1A (W1273R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1065175	NM_001165963.4(SCN1A):c.3625A>T (p.Arg1209Trp)	LOC102724058, SCN1A (R1180W +5 more)	Single nucleotide variant (missense variant +1 more)	West syndrome	GUncertain significance
Select item 1065174	NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)	LOC102724058, SCN1A (W1175* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 189941	NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	SCN1A (R612* +1 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1065178	NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro)	SCN1A (A432P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1065177	NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)	SCN1A (L373S)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
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 1065179	NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)	SCN1A (M145R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic