"3billion"[submitter] AND "SCN8A"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705682	NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)	SCN8A (T258A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1333715	NM_001330260.2(SCN8A):c.825del (p.Asn276fs)	SCN8A (N276fs)	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1321289	NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser)	SCN8A (G349S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 1526183	NM_001330260.2(SCN8A):c.2548C>G (p.Arg850Gly)	SCN8A (R850G)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GPathogenic
Select item 495260	NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	SCN8A (A874T)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GPathogenic/Likely pathogenic
Select item 192317	NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)	SCN8A (N984K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 1176944	NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)	SCN8A (G1050A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 1320055	NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro)	SCN8A (L1291P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GPathogenic/Likely pathogenic
Select item 1687579	NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala)	SCN8A (V1358A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 192318	NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	SCN8A (G1451S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 1320078	NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp)	SCN8A (A1609D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic