"Center of Excellence for Medical Genomics, Chulalongkorn University"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189896	NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	LOC102724058, SCN1A (R1881* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic
Select item 1704266	NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)	LOC102724058, SCN1A (R1613G +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GLikely pathogenic
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 206920	NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)	LOC102724058, SCN1A (P1490fs +5 more)	Duplication (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 189861	NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	LOC102724058, SCN1A (R1202* +5 more)	Single nucleotide variant (nonsense +1 more)	Seizure +4 more	GPathogenic
Select item 1704264	NM_001165963.4(SCN1A):c.2946+2T>C	SCN1A	Single nucleotide variant (splice donor variant)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 1704263	NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg)	SCN1A (W138R +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 189869	NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	SCN1A (R920H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic FDA Recognized database
Select item 1704262	NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)	SCN1A (L882R +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GLikely pathogenic
Select item 189844	NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	SCN1A (R854* +5 more)	Single nucleotide variant (nonsense +1 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic
Select item 68506	NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	SCN1A (R393H)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 1704267	NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn)	SCN1A (K276N)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 1704265	NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp)	SCN1A (V220D)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GPathogenic