"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931684	NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)	LOC114803470, SCN8A (P66H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 523504	NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr)	SCN8A (A855T)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +1 more	GUncertain significance
Select item 930337	NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)	SCN8A (G873C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 523505	NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)	SCN8A (F1412S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +5 more	GConflicting classifications of pathogenicity
Select item 931859	NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)	SCN8A (D1642N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 207136	NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)	SCN8A (R1960Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

ClinVar