"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68664	NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)	LOC102724058, SCN1A (M1841T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 206944	NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe)	LOC102724058, SCN1A (S1712F +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A Seizure Disorders +1 more	GPathogenic/Likely pathogenic
Select item 449638	NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)	LOC102724058, SCN1A (N1380H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 981165	NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp)	LOC102724058, SCN1A (N1253D +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1299760	NM_001165963.4(SCN1A):c.2344A>G (p.Thr782Ala)	SCN1A (T753A +4 more)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder	GLikely pathogenic
Select item 93664	NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)	SCN1A (R28H)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder +4 more	GConflicting classifications of pathogenicity

ClinVar