"Neurogenetics Laboratory - MEYER, AOU Meyer"[submitter] AND "SCN8A"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375541	NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser)	SCN8A (N307S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 375522	NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)	SCN8A (S978G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 207119	NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	SCN8A (G1475R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 253294	NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)	SCN8A (A1650T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GPathogenic
Select item 207131	NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	SCN8A (R1872W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
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