ClinVar for Gene (Select 6334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369307	NM_001330260.2(SCN8A):c.3835C>T (p.Leu1279Phe)	SCN8A (L1279F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367954	NM_001330260.2(SCN8A):c.1910T>C (p.Val637Ala)	SCN8A (V637A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367061	NM_001330260.2(SCN8A):c.2256C>A (p.Asp752Glu)	SCN8A (D752E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3366192	NM_001330260.2(SCN8A):c.3916G>A (p.Ala1306Thr)	SCN8A (A1306T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3364560	NM_001330260.2(SCN8A):c.371T>C (p.Ile124Thr)	SCN8A (I124T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364327	NM_001330260.2(SCN8A):c.908A>T (p.Glu303Val)	SCN8A (E303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364017	NM_001330260.2(SCN8A):c.3130T>A (p.Cys1044Ser)	SCN8A (C1044S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363855	NM_001330260.2(SCN8A):c.643A>G (p.Asn215Asp)	SCN8A (N215D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363338	NM_001330260.2(SCN8A):c.4156G>A (p.Glu1386Lys)	SCN8A (E1345K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361775	NM_001330260.2(SCN8A):c.2794G>T (p.Val932Leu)	SCN8A (V932L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361653	NM_001330260.2(SCN8A):c.1142G>A (p.Arg381Gln)	SCN8A (R381Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361259	NM_001330260.2(SCN8A):c.3290C>T (p.Pro1097Leu)	SCN8A (P1097L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360893	NM_001330260.2(SCN8A):c.1160A>G (p.Tyr387Cys)	SCN8A (Y387C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360263	NM_001330260.2(SCN8A):c.2213A>G (p.Tyr738Cys)	SCN8A (Y738C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359448	NM_001330260.2(SCN8A):c.4898G>A (p.Gly1633Asp)	SCN8A (G1592D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359106	NM_001330260.2(SCN8A):c.323C>T (p.Ala108Val)	SCN8A (A108V)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 3359076	NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)	SCN8A (G1614S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3359013	NM_001330260.2(SCN8A):c.2857T>C (p.Cys953Arg)	SCN8A (C953R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3359005	NM_001330260.2(SCN8A):c.3312_3372+4dup	SCN8A	Duplication (splice donor variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3352028	NM_001330260.2(SCN8A):c.1225G>C (p.Val409Leu)	SCN8A (V409L)	Single nucleotide variant (missense variant)	SCN8A-related disorder	GLikely pathogenic
Select item 3346179	NM_001330260.2(SCN8A):c.1168TTC[1] (p.Phe391del)	SCN8A (F391del)	Microsatellite (inframe_deletion)	SCN8A-related disorder	GUncertain significance
Select item 3344041	NM_001330260.2(SCN8A):c.782G>T (p.Cys261Phe)	SCN8A (C261F)	Single nucleotide variant (missense variant)	SCN8A-related disorder	GLikely pathogenic
Select item 3342516	NM_001330260.2(SCN8A):c.3858C>T (p.Tyr1286=)	SCN8A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3342155	NM_001330260.2(SCN8A):c.4512T>C (p.Ile1504=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340911	NM_001330260.2(SCN8A):c.4672A>G (p.Asn1558Asp)	SCN8A (N1517D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340898	NM_014191.4(SCN8A):c.615G>T (p.Ala205=)	SCN8A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3340842	NM_001330260.2(SCN8A):c.2747G>A (p.Arg916His)	SCN8A (R916H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339596	NM_001330260.2(SCN8A):c.5336C>T (p.Pro1779Leu)	SCN8A (P1738L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339281	NM_001330260.2(SCN8A):c.3372+6G>C	SCN8A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3337562	NM_001330260.2(SCN8A):c.4355C>T (p.Ser1452Phe)	SCN8A (S1411F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337561	NM_001330260.2(SCN8A):c.3367A>G (p.Lys1123Glu)	SCN8A (K1123E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337560	NM_001330260.2(SCN8A):c.2396A>G (p.Glu799Gly)	SCN8A (E799G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3316624	NM_001330260.2(SCN8A):c.2066C>G (p.Ala689Gly)	SCN8A (A689G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316623	NM_001330260.2(SCN8A):c.4272T>G (p.Asp1424Glu)	SCN8A (D1424E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316622	NM_001330260.2(SCN8A):c.2357C>T (p.Ala786Val)	SCN8A (A786V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316621	NM_001330260.2(SCN8A):c.5585T>C (p.Leu1862Ser)	SCN8A (L1862S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316620	NM_001330260.2(SCN8A):c.4951C>G (p.Leu1651Val)	SCN8A (L1610V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316619	NM_001330260.2(SCN8A):c.468C>A (p.Asp156Glu)	SCN8A (D156E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3316616	NM_001330260.2(SCN8A):c.3259A>C (p.Ile1087Leu)	SCN8A (I1087L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257133	NM_001330260.2(SCN8A):c.3427G>A (p.Val1143Ile)	SCN8A (V1143I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254875	NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)	SCN8A (Y1720C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 3253338	NM_001330260.2(SCN8A):c.3094A>G (p.Lys1032Glu)	SCN8A (K1032E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253060	NM_001330260.2(SCN8A):c.5325A>T (p.Glu1775Asp)	SCN8A (E1734D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252149	NM_001330260.2(SCN8A):c.973G>T (p.Gly325Trp)	SCN8A (G325W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244264	NC_000012.11:g.(?_52163632)_(52201213_?)dup	SCN8A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3244263	NC_000012.11:g.(?_52189566)_(52201213_?)dup	SCN8A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3244262	NC_000012.11:g.(?_52056602)_(52201213_?)dup	SCN8A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3242415	NM_001330260.2(SCN8A):c.4922T>C (p.Leu1641Pro)	SCN8A (L1600P +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 3239378	NM_001330260.2(SCN8A):c.3552G>A (p.Trp1184Ter)	SCN8A (W1184*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3238817	NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)	SCN8A (M1481K +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 3238793	NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)	SCN8A (R226P)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 3236815	NM_001330260.2(SCN8A):c.4789A>G (p.Ile1597Val)	SCN8A (I1556V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3236007	NM_001330260.2(SCN8A):c.3536G>A (p.Gly1179Glu)	SCN8A (G1179E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 3235701	NM_001330260.2(SCN8A):c.445A>G (p.Met149Val)	SCN8A (M149V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5	GLikely pathogenic
Select item 3234619	NM_001330260.2(SCN8A):c.4577T>C (p.Ile1526Thr)	SCN8A (I1485T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233909	NM_001330260.2(SCN8A):c.1847G>A (p.Gly616Asp)	SCN8A (G616D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158574	NM_001330260.2(SCN8A):c.5566C>G (p.Leu1856Val)	SCN8A (L1815V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158573	NM_001330260.2(SCN8A):c.1402del (p.Glu468fs)	SCN8A (E468fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 disorder	GUncertain significance
Select item 3044513	NM_001330260.2(SCN8A):c.5745C>T (p.Phe1915=)	SCN8A	Single nucleotide variant (synonymous variant)	SCN8A-related disorder	GLikely benign
Select item 3029905	NM_001330260.2(SCN8A):c.-70CGC[3]	SCN8A	Microsatellite (5 prime UTR variant)	SCN8A-related disorder	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)	not provided +1 more	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)	Early infantile epileptic encephalopathy with suppression bursts	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

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