ClinVar for Gene (Select 6334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067598	NM_001330260.2(SCN8A):c.4394A>G (p.Asp1465Gly)	SCN8A (D1424G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3067597	NM_001330260.2(SCN8A):c.4362C>T (p.Phe1454=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067150	NM_001330260.2(SCN8A):c.5273T>C (p.Val1758Ala)	SCN8A (V1717A +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067149	NM_001330260.2(SCN8A):c.5359A>C (p.Thr1787Pro)	SCN8A (T1746P +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067148	NM_001330260.2(SCN8A):c.4079_4080delinsGG (p.Thr1360Arg)	SCN8A (T1319R +1 more)	Indel (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067146	NM_014191.4(SCN8A):c.667_668delinsCA (p.Arg223Gln)	SCN8A (R223Q)	Indel (missense variant +1 more)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067145	NM_001330260.2(SCN8A):c.1122C>G (p.Asn374Lys)	SCN8A (N374K)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067144	NM_001330260.2(SCN8A):c.5280G>C (p.Met1760Ile)	SCN8A (M1719I +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067143	NM_001330260.2(SCN8A):c.417G>C (p.Met139Ile)	SCN8A (M139I)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067142	NM_001330260.2(SCN8A):c.2519T>C (p.Leu840Pro)	SCN8A (L840P)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3067141	NM_001330260.2(SCN8A):c.4961T>A (p.Ile1654Asn)	SCN8A (I1613N +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	Gnot provided
Select item 3066078	NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)	SCN8A (C324S)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
Select item 3063993	NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)	SCN8A (L882fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 3063576	NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)	SCN8A (D836V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3061364	NM_001330260.2(SCN8A):c.2196C>G (p.Ile732Met)	SCN8A (I732M)	Single nucleotide variant (missense variant)	SCN8A-related condition	GUncertain significance
Select item 3044513	NM_001330260.2(SCN8A):c.5745C>T (p.Phe1915=)	SCN8A	Single nucleotide variant (synonymous variant)	SCN8A-related condition	GLikely benign
Select item 3029905	NM_001330260.2(SCN8A):c.-70CGC[3]	SCN8A	Microsatellite (5 prime UTR variant)	SCN8A-related condition	GLikely benign
Select item 3026704	NM_001330260.2(SCN8A):c.345A>C (p.Leu115Phe)	SCN8A (L115F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026429	NM_001330260.2(SCN8A):c.5013C>T (p.Ser1671=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024271	NC_000012.11:g.52199766_52388207del	ACVR1B, ACVRL1 +3 more	Deletion	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 3020193	NM_001330260.2(SCN8A):c.4068C>T (p.Cys1356=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3017721	NM_001330260.2(SCN8A):c.4419+15dup	SCN8A	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 3016874	NM_001330260.2(SCN8A):c.3820-12G>C	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3013177	NM_001330260.2(SCN8A):c.1966G>A (p.Gly656Ser)	SCN8A (G656S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3012926	NM_001330260.2(SCN8A):c.2511G>A (p.Val837=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3012623	NM_001330260.2(SCN8A):c.3687C>T (p.Arg1229=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3012058	NM_001330260.2(SCN8A):c.4404T>C (p.Asn1468=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3004298	NM_001330260.2(SCN8A):c.708C>T (p.Gly236=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3003170	NM_001330260.2(SCN8A):c.3288A>G (p.Val1096=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3002345	NM_001330260.2(SCN8A):c.5595G>A (p.Leu1865=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3001870	NM_001330260.2(SCN8A):c.3372+13C>G	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3001246	NM_001330260.2(SCN8A):c.1841A>G (p.Tyr614Cys)	SCN8A (Y614C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2997769	NM_001330260.2(SCN8A):c.1342-5C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2994817	NM_001330260.2(SCN8A):c.4281+6G>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2992832	NM_001330260.2(SCN8A):c.1954_1959dup (p.Gly653_Gly654insIleGly)	SCN8A	Duplication (inframe_insertion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2987001	NM_001330260.2(SCN8A):c.1636-14G>C	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2976035	NM_001330260.2(SCN8A):c.1837_1845del (p.Ser613_Ser615del)	SCN8A	Deletion (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2975016	NM_001330260.2(SCN8A):c.5671C>T (p.Arg1891Cys)	SCN8A (R1891C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2973294	NM_001330260.2(SCN8A):c.1506A>G (p.Glu502=)	SCN8A	Single nucleotide variant (synonymous variant)	SCN8A-related condition +1 more	GLikely benign
Select item 2971745	NM_001330260.2(SCN8A):c.1985G>A (p.Arg662His)	SCN8A (R662H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2970698	NM_001330260.2(SCN8A):c.1977C>T (p.Ile659=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2966923	NM_001330260.2(SCN8A):c.4525-9C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2966162	NM_001330260.2(SCN8A):c.1020G>A (p.Met340Ile)	SCN8A (M340I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2964855	NM_001330260.2(SCN8A):c.1605A>G (p.Arg535=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2961616	NM_001330260.2(SCN8A):c.5722G>A (p.Gly1908Arg)	SCN8A (G1867R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2957635	NM_001330260.2(SCN8A):c.5738G>A (p.Arg1913Gln)	SCN8A (R1872Q +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2957309	NM_001330260.2(SCN8A):c.1998+17C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2920428	NM_001330260.2(SCN8A):c.3969C>T (p.Ala1323=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2920413	NM_001330260.2(SCN8A):c.2517G>T (p.Gly839=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2920015	NM_001330260.2(SCN8A):c.2428T>C (p.Tyr810His)	SCN8A (Y810H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2919786	NM_014191.4(SCN8A):c.678G>A (p.Arg226=)	SCN8A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2919785	NM_001330260.2(SCN8A):c.361A>T (p.Ile121Leu)	SCN8A (I121L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2918844	NM_001330260.2(SCN8A):c.2132-13T>C	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2918813	NM_001330260.2(SCN8A):c.993-10del	SCN8A	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2917948	NM_001330260.2(SCN8A):c.4930T>C (p.Leu1644=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2916259	NM_001330260.2(SCN8A):c.1818G>A (p.Arg606=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2914967	NM_001330260.2(SCN8A):c.396-20G>A	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2914102	NM_001330260.2(SCN8A):c.1824C>A (p.Arg608=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2913703	NM_001330260.2(SCN8A):c.3645+8C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2913565	NM_001330260.2(SCN8A):c.2953C>T (p.Leu985=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2912389	NM_001330260.2(SCN8A):c.2132-11dup	SCN8A	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2912385	NM_001330260.2(SCN8A):c.5066A>C (p.Glu1689Ala)	SCN8A (E1648A +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2911964	NM_001330260.2(SCN8A):c.4282-14C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2911827	NM_001330260.2(SCN8A):c.217C>T (p.Pro73Ser)	LOC114803470, SCN8A (P73S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2911216	NM_001330260.2(SCN8A):c.3819T>C (p.Ala1273=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2910052	NM_001330260.2(SCN8A):c.1973A>G (p.His658Arg)	SCN8A (H658R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2909830	NM_001330260.2(SCN8A):c.2186C>G (p.Thr729Ser)	SCN8A (T729S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2908679	NM_001330260.2(SCN8A):c.2265G>C (p.Val755=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2907584	NM_001330260.2(SCN8A):c.614+13C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2907429	NM_001330260.2(SCN8A):c.4398C>G (p.Asn1466Lys)	SCN8A (N1425K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2907189	NM_001330260.2(SCN8A):c.1885A>G (p.Ile629Val)	SCN8A (I629V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2905879	NM_001330260.2(SCN8A):c.2174A>T (p.Lys725Ile)	SCN8A (K725I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2903870	NM_001330260.2(SCN8A):c.3942+14del	SCN8A	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2903553	NM_001330260.2(SCN8A):c.4556T>C (p.Val1519Ala)	SCN8A (V1478A +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2897931	NM_001330260.2(SCN8A):c.1876T>A (p.Ser626Thr)	SCN8A (S626T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2897729	NM_001330260.2(SCN8A):c.396-9C>A	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2897568	NM_001330260.2(SCN8A):c.4420-9C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2894009	NM_001330260.2(SCN8A):c.833G>A (p.Arg278Gln)	SCN8A (R278Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2892014	NM_001330260.2(SCN8A):c.5650G>A (p.Glu1884Lys)	SCN8A (E1843K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2891888	NM_001330260.2(SCN8A):c.1044T>C (p.Tyr348=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2885432	NM_001330260.2(SCN8A):c.1903C>T (p.Arg635Cys)	SCN8A (R635C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2884598	NM_001330260.2(SCN8A):c.3436G>A (p.Val1146Ile)	SCN8A (V1146I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2882342	NM_001330260.2(SCN8A):c.1014G>T (p.Gln338His)	SCN8A (Q338H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2880978	NM_001330260.2(SCN8A):c.4669A>G (p.Ile1557Val)	SCN8A (I1516V +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2878361	NM_001330260.2(SCN8A):c.456T>C (p.Ser152=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2874340	NM_001330260.2(SCN8A):c.2902-11dup	SCN8A	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2873656	NM_001330260.2(SCN8A):c.3054C>T (p.Phe1018=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2868077	NM_001330260.2(SCN8A):c.4282-3C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2867110	NM_001330260.2(SCN8A):c.1722C>G (p.Phe574Leu)	SCN8A (F574L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2865564	NM_001330260.2(SCN8A):c.4638A>T (p.Gln1546His)	SCN8A (Q1505H +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2865484	NM_001330260.2(SCN8A):c.4377C>G (p.Phe1459Leu)	SCN8A (F1459L +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2864798	NM_001330260.2(SCN8A):c.4896A>T (p.Lys1632Asn)	SCN8A (K1591N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2864654	NM_014191.4(SCN8A):c.695C>T (p.Ser232Leu)	SCN8A (S232L)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2863483	NM_001330260.2(SCN8A):c.2371-19C>A	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2862846	NM_001330260.2(SCN8A):c.4752C>T (p.Gly1584=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2861868	NM_001330260.2(SCN8A):c.4281+6G>A	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2859969	NM_001330260.2(SCN8A):c.2044T>G (p.Leu682Val)	SCN8A (L682V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2858866	NM_001330260.2(SCN8A):c.3917C>G (p.Ala1306Gly)	SCN8A (A1306G)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2855877	NM_001330260.2(SCN8A):c.3109T>C (p.Leu1037=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2852598	NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)	SCN8A (I1586T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic

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