"Revvity Omics, Revvity"[submitter] AND "SCN8A"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1993923	NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)	LOC114803470, SCN8A (I29L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2435764	NM_001330260.2(SCN8A):c.615-247dup	SCN8A	Duplication (intron variant +1 more)	not provided	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 2435766	NM_001330260.2(SCN8A):c.1437A>T (p.Glu479Asp)	SCN8A (E479D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435763	NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)	SCN8A (R558C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435765	NM_001330260.2(SCN8A):c.1816C>T (p.Arg606Trp)	SCN8A (R606W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965264	NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)	SCN8A (R628L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435768	NM_001330260.2(SCN8A):c.1893C>T (p.Pro631=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 833934	NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala)	SCN8A (S657A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 943153	NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg)	SCN8A (G692R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1785496	NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)	SCN8A (R693Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2435769	NM_001330260.2(SCN8A):c.2901+35C>A	SCN8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2435762	NM_001330260.2(SCN8A):c.3151G>C (p.Ala1051Pro)	SCN8A (A1051P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435770	NM_001330260.2(SCN8A):c.3244G>T (p.Asp1082Tyr)	SCN8A (D1082Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207112	NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu)	SCN8A (P1119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2435761	NM_001330260.2(SCN8A):c.3377T>G (p.Leu1126Arg)	SCN8A (L1126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063506	NM_001330260.2(SCN8A):c.3761A>G (p.Tyr1254Cys)	SCN8A (Y1254C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2690491	NM_001330260.2(SCN8A):c.4408C>G (p.Gln1470Glu)	SCN8A (Q1429E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 642768	NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr)	SCN8A (A1450T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 449813	NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)	SCN8A (M1530I +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign FDA Recognized database
Select item 568706	NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)	SCN8A (I1563V +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign FDA Recognized database
Select item 1066236	NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)	SCN8A (E1566K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 530447	NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val)	SCN8A (M1836V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130252	NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	SCN8A (N1877S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GConflicting classifications of pathogenicity
Select item 207136	NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)	SCN8A (R1960Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 26