"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978937	NM_001330260.2(SCN8A):c.993-58A>G	SCN8A	Single nucleotide variant (intron variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 857965	NM_001330260.2(SCN8A):c.1193G>C (p.Gly398Ala)	SCN8A (G398A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 978938	NM_001330260.2(SCN8A):c.1236_1251del (p.Met412fs)	SCN8A (M412fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 290005	NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)	SCN8A (R1626H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity
Select item 836368	NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser)	SCN8A (A1650S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 130252	NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	SCN8A (N1877S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity

ClinVar