"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 15

	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)	Early infantile epileptic encephalopathy with suppression bursts +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 1258183	NM_001330260.2(SCN8A):c.1635+67G>A	SCN8A	Single nucleotide variant (intron variant)	not provided +1 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 135651	NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	SCN8A (R850Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +6 more	GPathogenic/Likely pathogenic
Select item 669362	NM_001330260.2(SCN8A):c.3372+129A>G	SCN8A	Single nucleotide variant (intron variant)	not specified +1 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 670844	NM_001330260.2(SCN8A):c.4228-27C>T	SCN8A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1705830	NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)	SCN8A (F1426V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GLikely pathogenic
Select item 2687749	NM_001330260.2(SCN8A):c.4460A>T (p.Lys1487Met)	SCN8A (K1446M +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 130247	NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GBenign
Select item 670845	NM_001330260.2(SCN8A):c.4524+56A>G	SCN8A	Single nucleotide variant (intron variant)	not specified +1 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)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GBenign