C0393706[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098584	NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu)	SZT2 (V1063L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1040798	NM_001365999.1(SZT2):c.5815C>T (p.Arg1939Trp)	SZT2 (R1882W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 206802	NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	SCN1A (R28C)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +5 more	GConflicting classifications of pathogenicity
Select item 238538	NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val)	SPTAN1 (F512V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 530423	NM_001330260.2(SCN8A):c.5710C>T (p.Arg1904Cys)	SCN8A (R1904C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 120176	NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	KCNQ2 (A265V)	Single nucleotide variant (missense variant)	Seizure +5 more	GPathogenic/Likely pathogenic

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