"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SCN8A"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585242	NM_001330260.2(SCN8A):c.1179G>T (p.Leu393Phe)	SCN8A (L393F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 64	GUncertain significance
Select item 996298	NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys)	SCN8A (Y617C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2627422	NM_001330260.2(SCN8A):c.2016A>C (p.Glu672Asp)	SCN8A (E672D)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1339139	NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His)	SCN8A (Q1020H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 1878660	NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)	SCN8A (D1035N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GUncertain significance
Select item 2584848	NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)	SCN8A (N1109K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 461339	NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln)	SCN8A (R1188Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 802859	NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)	SCN8A (I1491F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GConflicting classifications of pathogenicity