"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 426175	NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)	LOC102724058, SCN1A (V1470I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 871605	NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)	LOC102724058, SCN1A (I1185T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1060427	NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val)	LOC102724058, SCN1A (D1024V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1701073	NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile)	SCN1A (M142I +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely pathogenic
Select item 978917	NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr)	SCN1A (I68T +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 93639	NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	SCN1A (R848H +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic
Select item 1701075	NM_001165963.4(SCN1A):c.2226del (p.Asn743fs)	SCN1A (N714fs +4 more)	Deletion (frameshift variant +2 more)	Seizure	GPathogenic
Select item 801809	NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)	SCN1A (V671A)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1701077	NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)	SCN1A (S479* +1 more)	Single nucleotide variant (nonsense +2 more)	Seizure	GPathogenic
Select item 1701074	NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs)	SCN1A (N386fs)	Duplication (frameshift variant +2 more)	Seizure	GPathogenic
Select item 189963	NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	SCN1A (R377*)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 950975	NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile)	SCN1A (T367I)	Single nucleotide variant (missense variant +2 more)	See cases +1 more	GUncertain significance
Select item 801815	NM_001165963.4(SCN1A):c.1028+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 12889	NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SCN1A (R222*)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +6 more	GPathogenic/Likely pathogenic
Select item 426348	NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile)	SCN1A (V203I)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance