C3281191[trait identifier] AND "Center For Human Genetics And Laborato - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048639	NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)	SCN8A (Y1402C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 869447	NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr)	SCN8A (I1479T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic