"University of British Columbia, BC Children's Hospital"[submitter] AN - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559632	NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile)	SCN8A (T258I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1699202	NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)	SCN8A (C324Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic/Likely pathogenic
Select item 1518887	NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)	SCN8A (D329G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2578022	NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)	SCN8A (A413D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 253195	NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	SCN8A (E1483K +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GPathogenic
Select item 130252	NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	SCN8A (N1877S +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +4 more	GConflicting classifications of pathogenicity

ClinVar