"GeneDx"[submitter] AND "SCN8A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207103	NM_001330260.2(SCN8A):c.-67C>T	SCN8A	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 379153	NM_001330260.2(SCN8A):c.-61C>T	SCN8A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1266367	NM_001330260.2(SCN8A):c.-55+12C>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509397	NM_001330260.2(SCN8A):c.-55+13A>G	SCN8A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 381890	NM_001330260.2(SCN8A):c.-55+20C>G	SCN8A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1210841	NM_001330260.2(SCN8A):c.-54-4C>G	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449257	NM_001330260.2(SCN8A):c.11G>A (p.Arg4Gln)	LOC114803470, SCN8A (R4Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318212	NM_001330260.2(SCN8A):c.19G>C (p.Ala7Pro)	LOC114803470, SCN8A (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317384	NM_001330260.2(SCN8A):c.21A>C (p.Ala7=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1063414	NM_001330260.2(SCN8A):c.50_55del (p.Phe17_Pro19delinsSer)	LOC114803470, SCN8A	Deletion (inframe_indel)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 871342	NM_001330260.2(SCN8A):c.56_57del (p.Pro19fs)	LOC114803470, SCN8A (P19fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1352375	NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)	LOC114803470, SCN8A (R28C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 647828	NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)	LOC114803470, SCN8A (S32N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 378552	NM_001330260.2(SCN8A):c.120C>T (p.Ala40=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1700989	NM_001330260.2(SCN8A):c.133C>T (p.Arg45Trp)	LOC114803470, SCN8A (R45W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207137	NM_001330260.2(SCN8A):c.134G>A (p.Arg45Gln)	LOC114803470, SCN8A (R45Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 426406	NM_001330260.2(SCN8A):c.142G>A (p.Asp48Asn)	LOC114803470, SCN8A (D48N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 392945	NM_001330260.2(SCN8A):c.158C>G (p.Pro53Arg)	LOC114803470, SCN8A (P53R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1695686	NM_001330260.2(SCN8A):c.168C>G (p.Asn56Lys)	LOC114803470, SCN8A (N56K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618418	NM_001330260.2(SCN8A):c.168C>T (p.Asn56=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 589596	NM_001330260.2(SCN8A):c.177G>A (p.Leu59=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1320794	NM_001330260.2(SCN8A):c.182C>T (p.Ala61Val)	LOC114803470, SCN8A (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385247	NM_001330260.2(SCN8A):c.195G>A (p.Leu65=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1329653	NM_001330260.2(SCN8A):c.197C>G (p.Pro66Arg)	LOC114803470, SCN8A (P66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371018	NM_001330260.2(SCN8A):c.206A>G (p.Tyr69Cys)	LOC114803470, SCN8A (Y69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413880	NM_001330260.2(SCN8A):c.207C>T (p.Tyr69=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 452224	NM_001330260.2(SCN8A):c.208G>A (p.Gly70Arg)	LOC114803470, SCN8A (G70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318989	NM_001330260.2(SCN8A):c.260A>G (p.Tyr87Cys)	LOC114803470, SCN8A (Y87C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668464	NM_001330260.2(SCN8A):c.270G>A (p.Thr90=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 195293	NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326397	NM_001330260.2(SCN8A):c.276A>G (p.Lys92=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1255195	NM_001330260.2(SCN8A):c.277-47A>G	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512614	NM_001330260.2(SCN8A):c.277-23TC[2]	SCN8A	Microsatellite (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1386265	NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe)	SCN8A (L97F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196461	NM_001330260.2(SCN8A):c.302A>G (p.Lys101Arg)	SCN8A (K101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207138	NM_001330260.2(SCN8A):c.331G>A (p.Ala111Thr)	SCN8A (A111T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443640	NM_001330260.2(SCN8A):c.350C>T (p.Pro117Leu)	SCN8A (P117L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254447	NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met)	SCN8A (I121M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1291020	NM_001330260.2(SCN8A):c.395+25T>C	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267478	NM_001330260.2(SCN8A):c.395+44G>A	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179572	NM_001330260.2(SCN8A):c.395+121C>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276952	NM_001330260.2(SCN8A):c.395+243del	SCN8A	Deletion (intron variant)	not provided	GBenign
Select item 669408	NM_001330260.2(SCN8A):c.395+262T>C	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674065	NM_001330260.2(SCN8A):c.395+327G>A	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387539	NM_001330260.2(SCN8A):c.396-5T>C	SCN8A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2576771	NM_001330260.2(SCN8A):c.396-1C>T	SCN8A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 285388	NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1465027	NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)	SCN8A (I142V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1318663	NM_001330260.2(SCN8A):c.435C>G (p.Asn145Lys)	SCN8A (N145K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386727	NM_001330260.2(SCN8A):c.435C>T (p.Asn145=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified	GLikely 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 379363	NM_001330260.2(SCN8A):c.474G>A (p.Ser158=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 516649	NM_001330260.2(SCN8A):c.485+17T>C	SCN8A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 509291	NM_001330260.2(SCN8A):c.485+18G>A	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1191133	NM_001330260.2(SCN8A):c.485+311del	SCN8A	Deletion (intron variant)	not provided	GLikely benign
Select item 1178287	NM_001330260.2(SCN8A):c.485+307T>C	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 197801	NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)	SCN8A (T164M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 514712	NM_001330260.2(SCN8A):c.492G>A (p.Thr164=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 378553	NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile)	SCN8A (T166I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029254	NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser)	SCN8A (C183S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 419047	NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val)	SCN8A (I184V)	Single nucleotide variant (missense variant)	SCN8A-related disorder +1 more	GUncertain significance
Select item 130253	NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +7 more	GBenign
Select item 511512	NM_001330260.2(SCN8A):c.579A>G (p.Pro193=)	SCN8A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 207140	NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu)	SCN8A (A205E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 1218413	NM_001330260.2(SCN8A):c.614+261A>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200506	NM_001330260.2(SCN8A):c.614+313C>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677607	NM_001330260.2(SCN8A):c.615-436C>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265224	NM_001330260.2(SCN8A):c.615-291G>A	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489373	NM_014191.4(SCN8A):c.615-1G>A	SCN8A	Single nucleotide variant (splice acceptor variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
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 207145	NM_014191.4(SCN8A):c.619A>G (p.Ile207Val)	SCN8A (I207V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1153326	NM_014191.4(SCN8A):c.630T>C (p.Phe210=)	SCN8A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 373565	NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)	SCN8A (V211A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 420809	NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro)	SCN8A (S217P)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 207104	NM_014191.4(SCN8A):c.657A>G (p.Leu219=)	SCN8A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 665356	NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser)	SCN8A (R223S)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 1274077	NM_001330260.2(SCN8A):c.615-144C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 381251	NM_001330260.2(SCN8A):c.615-143G>A	SCN8A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1691584	NM_001330260.2(SCN8A):c.615-34C>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2571979	NM_001330260.2(SCN8A):c.658A>T (p.Arg220Ter)	SCN8A (R220*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 748133	NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr)	SCN8A (R223T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1191017	NM_001330260.2(SCN8A):c.669G>C (p.Arg223Ser)	SCN8A (R223S)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 3375736	NM_001330260.2(SCN8A):c.677G>A (p.Arg226Gln)	SCN8A (R226Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1245483	NM_001330260.2(SCN8A):c.706+36A>G	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291197	NM_001330260.2(SCN8A):c.706+41C>G	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216283	NM_001330260.2(SCN8A):c.707-318A>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592082	NM_001330260.2(SCN8A):c.707-19G>A	SCN8A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 392596	NM_001330260.2(SCN8A):c.707-15A>G	SCN8A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 378554	NM_001330260.2(SCN8A):c.707-15A>T	SCN8A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 419568	NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val)	SCN8A (I240V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 419511	NM_001330260.2(SCN8A):c.718A>C (p.Ile240Leu)	SCN8A (I240L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 378555	NM_001330260.2(SCN8A):c.726T>A (p.Gly242=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 383681	NM_001330260.2(SCN8A):c.744G>A (p.Val248=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 207095	NM_001330260.2(SCN8A):c.751C>T (p.Leu251=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 373224	NM_001330260.2(SCN8A):c.760G>A (p.Val254Met)	SCN8A (V254M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 514358	NM_001330260.2(SCN8A):c.768C>A (p.Ile256=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 420906	NM_001330260.2(SCN8A):c.769C>G (p.Leu257Val)	SCN8A (L257V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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