"Genome-Nilou Lab"[submitter] AND "SCN8A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130253	NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +7 more	GBenign
Select item 670686	NM_001330260.2(SCN8A):c.1135-48C>T	SCN8A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1250894	NM_001330260.2(SCN8A):c.2371-32A>C	SCN8A	Single nucleotide variant (intron variant)	Myoclonus, familial, 2 +5 more	GBenign
Select item 1169384	NM_001330260.2(SCN8A):c.2545-7dup	SCN8A	Duplication (intron variant)	Cognitive impairment with or without cerebellar ataxia +6 more	GBenign
Select item 260352	NM_001330260.2(SCN8A):c.3490+20G>A	SCN8A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 13 +6 more	GBenign
Select item 130247	NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 1221685	NM_001330260.2(SCN8A):c.4796-38C>A	SCN8A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 130251	NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign

ClinVar