Related gene-specific medical variations for Gene (Select 102724058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158517	NM_001165963.4(SCN1A):c.5845G>A (p.Gly1949Ser)	LOC102724058, SCN1A (G1920S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067167	NM_001165963.4(SCN1A):c.3610T>A (p.Trp1204Arg)	LOC102724058, SCN1A (W1175R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067166	NM_001165963.4(SCN1A):c.4759G>A (p.Glu1587Lys)	LOC102724058, SCN1A (E1558K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067164	NM_001165963.4(SCN1A):c.5768A>G (p.Gln1923Arg)	LOC102724058, SCN1A (Q1109R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067161	NM_001165963.4(SCN1A):c.5779A>G (p.Arg1927Gly)	LOC102724058, SCN1A (R1113G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067160	NM_001165963.4(SCN1A):c.4467G>T (p.Gln1489His)	LOC102724058, SCN1A (Q1460H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067158	NM_001165963.4(SCN1A):c.4498A>G (p.Met1500Val)	LOC102724058, SCN1A (M1471V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067157	NM_001165963.4(SCN1A):c.3801G>C (p.Met1267Ile)	LOC102724058, SCN1A (M1238I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067156	NM_001165963.4(SCN1A):c.5009T>G (p.Leu1670Trp)	LOC102724058, SCN1A (L1641W +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067155	NM_001165963.4(SCN1A):c.4946_4947delinsAA (p.Leu1649Gln)	LOC102724058, SCN1A (L1620Q +5 more)	Indel (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067153	NM_001165963.4(SCN1A):c.4494C>G (p.Ile1498Met)	LOC102724058, SCN1A (I1469M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067151	NM_001165963.4(SCN1A):c.5354T>G (p.Ile1785Ser)	LOC102724058, SCN1A (I1756S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067147	NM_001165963.4(SCN1A):c.4981T>C (p.Phe1661Leu)	LOC102724058, SCN1A (F1632L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067140	NM_001165963.4(SCN1A):c.4243T>A (p.Phe1415Ile)	LOC102724058, SCN1A (F1386I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3065909	NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)	LOC102724058, SCN1A (A1695P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3065907	NM_001165963.4(SCN1A):c.3290T>G (p.Ile1097Ser)	LOC102724058, SCN1A (I1068S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3065501	NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)	LOC102724058, SCN1A (F1194C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064506	NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)	LOC102724058, SCN1A (Q1137fs +5 more)	Deletion (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3063577	NM_001165963.4(SCN1A):c.4880A>T (p.Lys1627Met)	LOC102724058, SCN1A (K1598M +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 3061392	NM_001165963.4(SCN1A):c.4942C>A (p.Arg1648Ser)	LOC102724058, SCN1A (R1619S +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related condition	GUncertain significance
Select item 3020661	NM_001165963.4(SCN1A):c.5378C>T (p.Thr1793Ile)	LOC102724058, SCN1A (T1781I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3015292	NM_001165963.4(SCN1A):c.3260G>A (p.Gly1087Glu)	LOC102724058, SCN1A (G273E +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3014711	NM_001165963.4(SCN1A):c.5427T>C (p.Tyr1809=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3014149	NM_001165963.4(SCN1A):c.5581C>A (p.Arg1861=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3010983	NM_001165963.4(SCN1A):c.4002+2147T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3010692	NM_001165963.4(SCN1A):c.4002+2544G>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3008878	NM_001165963.4(SCN1A):c.3332T>C (p.Leu1111Pro)	LOC102724058, SCN1A (L1082P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3004444	NM_001165963.4(SCN1A):c.4002+2369G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3003144	NM_001165963.4(SCN1A):c.5304T>C (p.Ser1768=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3001345	NM_001165963.4(SCN1A):c.4002+2407A>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2997407	NM_001165963.4(SCN1A):c.5196C>T (p.Pro1732=)	LOC102724058, SCN1A	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2996838	NM_001165963.4(SCN1A):c.3342T>C (p.Thr1114=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2996331	NM_001165963.4(SCN1A):c.4002+2005G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2996321	NM_001165963.4(SCN1A):c.4002+2537A>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2995799	NM_001165963.4(SCN1A):c.4002+2182A>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2991808	NM_001165963.4(SCN1A):c.4338+17T>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2986259	NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)	LOC102724058, SCN1A (C1342G +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2985924	NM_001165963.4(SCN1A):c.4002+2098T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2984261	NM_001165963.4(SCN1A):c.4002+2624C>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2978537	NM_001165963.4(SCN1A):c.4342G>A (p.Glu1448Lys)	LOC102724058, SCN1A (E1436K +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2978259	NM_001165963.4(SCN1A):c.4002+2356del	LOC102724058, SCN1A	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2973097	NM_001165963.4(SCN1A):c.4002+2008C>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2972409	NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)	LOC102724058, SCN1A (S1202N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2967165	NM_001165963.4(SCN1A):c.4306G>A (p.Asp1436Asn)	LOC102724058, SCN1A (D1424N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2963261	NM_001165963.4(SCN1A):c.4134C>T (p.Asn1378=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2960867	NM_001165963.4(SCN1A):c.4002+2347T>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2959868	NM_001165963.4(SCN1A):c.5872G>A (p.Asp1958Asn)	LOC102724058, SCN1A (D1958N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2959591	NM_001165963.4(SCN1A):c.5032T>C (p.Phe1678Leu)	LOC102724058, SCN1A (F1666L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2958859	NM_001165963.4(SCN1A):c.4002+2649del	LOC102724058, SCN1A	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2956567	NM_001165963.4(SCN1A):c.4002+1979G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2955910	NM_001165963.4(SCN1A):c.3337G>A (p.Val1113Met)	LOC102724058, SCN1A (V1085M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2955582	NM_001165963.4(SCN1A):c.4002+2576T>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2917321	NM_001165963.4(SCN1A):c.3429+20G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2916892	NM_001165963.4(SCN1A):c.3572G>A (p.Cys1191Tyr)	LOC102724058, SCN1A (C1179Y +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2916629	NM_001165963.4(SCN1A):c.4002+20C>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2910146	NM_001165963.4(SCN1A):c.5321T>C (p.Phe1774Ser)	LOC102724058, SCN1A (F1745S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2910145	NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu)	LOC102724058, SCN1A (P1024L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2907322	NM_001165963.4(SCN1A):c.5481del (p.Lys1827fs)	LOC102724058, SCN1A (K1815fs +5 more)	Deletion (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2902376	NM_001165963.4(SCN1A):c.3596G>A (p.Gly1199Asp)	LOC102724058, SCN1A (G1170D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2900450	NM_001165963.4(SCN1A):c.4002+2455G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2899521	NM_001165963.4(SCN1A):c.3885A>T (p.Ser1295=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2896243	NM_001165963.4(SCN1A):c.5704T>C (p.Ser1902Pro)	LOC102724058, SCN1A (S1873P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2892681	NM_001165963.4(SCN1A):c.3684T>A (p.Ile1228=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2892201	NM_001165963.4(SCN1A):c.5096T>C (p.Val1699Ala)	LOC102724058, SCN1A (V1688A +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2889664	NM_001165963.4(SCN1A):c.5103C>T (p.Ile1701=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2889663	NM_001165963.4(SCN1A):c.5124G>A (p.Glu1708=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2888791	NM_001165963.4(SCN1A):c.4284+7G>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2884463	NM_001165963.4(SCN1A):c.3550+18A>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2883991	NM_001165963.4(SCN1A):c.4915del (p.Arg1639fs)	LOC102724058, SCN1A (R1639fs +5 more)	Deletion (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2879748	NM_001165963.4(SCN1A):c.4002+2538T>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2878913	NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2877727	NM_001165963.4(SCN1A):c.5913A>G (p.Glu1971=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2876229	NM_001165963.4(SCN1A):c.4285-12C>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2876224	NM_001165963.4(SCN1A):c.5249G>A (p.Ser1750Asn)	LOC102724058, SCN1A (S1738N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2875689	NM_001165963.4(SCN1A):c.4002+2649T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2873136	NM_001165963.4(SCN1A):c.4002+2109T>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2872079	NM_001165963.4(SCN1A):c.4156G>A (p.Asp1386Asn)	LOC102724058, SCN1A (D572N +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2869348	NM_001165963.4(SCN1A):c.4232T>C (p.Val1411Ala)	LOC102724058, SCN1A (V1382A +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2869273	NM_001165963.4(SCN1A):c.4002+2545T>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2866808	NM_001165963.4(SCN1A):c.3848C>G (p.Ala1283Gly)	LOC102724058, SCN1A (A1254G +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2866251	NM_001165963.4(SCN1A):c.5013dup (p.Asn1672Ter)	LOC102724058, SCN1A (N1643* +5 more)	Duplication (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2864086	NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)	LOC102724058, SCN1A (W1784L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2863530	NM_001165963.4(SCN1A):c.4263G>C (p.Gly1421=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2863180	NM_001165963.4(SCN1A):c.5455G>A (p.Ala1819Thr)	LOC102724058, SCN1A (A1791T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2862362	NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala)	LOC102724058, SCN1A (G1743A +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2861060	NM_001165963.4(SCN1A):c.3791T>C (p.Ile1264Thr)	LOC102724058, SCN1A (I1235T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2861054	NM_001165963.4(SCN1A):c.4557del (p.Gln1520fs)	LOC102724058, SCN1A (Q1491fs +5 more)	Deletion (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2860283	NM_001165963.4(SCN1A):c.4476+1A>C	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2859956	NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)	LOC102724058, SCN1A (A304S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2858967	NM_001165963.4(SCN1A):c.5933C>T (p.Ser1978Phe)	LOC102724058, SCN1A (S1949F +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2857930	NM_001165963.4(SCN1A):c.4590T>G (p.Phe1530Leu)	LOC102724058, SCN1A (F1502L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2855615	NM_001165963.4(SCN1A):c.5688C>T (p.Ser1896=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2854750	NM_001165963.4(SCN1A):c.4611C>T (p.Phe1537=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2853312	NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter)	LOC102724058, SCN1A (K678* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2852510	NM_001165963.4(SCN1A):c.4002+2276G>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2850913	NM_001165963.4(SCN1A):c.4002+2467C>T	LOC102724058, SCN1A	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2850878	NM_001165963.4(SCN1A):c.3110C>A (p.Ser1037Tyr)	LOC102724058, SCN1A (S1025Y +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2848849	NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)	LOC102724058, SCN1A (R1607L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2847117	NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)	LOC102724058, SCN1A (I731T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2846763	NM_001165963.4(SCN1A):c.5448T>A (p.Asp1816Glu)	LOC102724058, SCN1A (D1788E +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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