"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SCN8A"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139075	NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +6 more	GBenign/Likely benign
Select item 207139	NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)	SCN8A (N153H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1039121	NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)	SCN8A (E466K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1406186	NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)	SCN8A (P474S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GUncertain significance
Select item 130242	NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)	SCN8A	Single nucleotide variant (synonymous variant)	Cognitive impairment with or without cerebellar ataxia +7 more	GBenign
Select item 139069	NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)	SCN8A (I700L)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1371411	NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)	SCN8A (A1046T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GUncertain significance
Select item 436670	NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)	SCN8A (R1055Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 130246	NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 287399	NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 579919	NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)	SCN8A (I1827V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity
Select item 420831	NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)	SCN8A (M1869T +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +4 more	GConflicting classifications of pathogenicity